the presentation of cystic fibrosis varies due to

• Patient Care & Health Information
• Diseases & Conditions
• Cystic fibrosis
• What is cystic fibrosis? A Mayo Clinic expert explains

Learn more from pulmonologist Sarah Chalmers, M.D.

Hello. I'm Dr. Sarah Chalmers, a pulmonologist at Mayo Clinic. In this video, we'll cover the basics of cystic fibrosis. What is it? Who gets it? The symptoms, diagnosis and treatment. Whether you're looking for answers for yourself or someone you love, we're here to give you the best information available. Cystic fibrosis is a disorder that damages your lungs, digestive tract and other organs. It's an inherited disease caused by a defective gene that can be passed from generation to generation. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF, they're thick and sticky. Instead of acting as lubricants, these secretions plug up the tubes, ducts and airways in your body. Although there is no cure for cystic fibrosis, people with this condition are generally able to live normal lives. There are many tools and techniques doctors use to help manage this complicated condition and with improvement in screening and treatments, life expectancy for those with cystic fibrosis is better than ever before.

Simply put, cystic fibrosis is a gene defect. A defect to this gene changes how a salt moves in and out of cells, resulting in thick, sticky mucus in the respiratory, digestive and reproductive systems. It's an inherited condition. A child needs to inherit one copy of the mutated gene from each parent to develop cystic fibrosis. If they only inherit one copy from one parent, they won't develop it. However, they will be a carrier of that mutated gene, so they could pass it along to their own children in the future. Because CF is an inherited disorder, family history determines your risk. Although it can occur in all races, cystic fibrosis is most common in white people of North European ancestry.

There are two kinds of symptoms associated with cystic fibrosis. The first are respiratory symptoms. Thick, sticky mucus can clog the tubes that carry air in and out of your lungs. This can trigger a persistent cough that produces thick mucus, wheezing, exercise intolerance, repeated lung infections, and inflamed nasal passages or a stuffy nose or recurrent sinusitis. The second type of symptoms are digestive. That same thick mucus that can clog your airways can also bog tubes that carry enzymes from your pancreas to your small intestine. This can result in foul-smelling or greasy stools, poor weight gain and growth, intestinal blockage, or chronic and severe constipation, which may include frequent straining while trying to pass stool. If you or your child show symptoms of cystic fibrosis or if someone in your family has CF, talk with your doctor about testing for the disease.

Since this disease is an inherited condition, reviewing your family history is important. Genetic testing may be done to see if you carry the mutated gene that triggers cystic fibrosis. A sweat test may also be conducted. CF causes higher than normal levels of salt in your sweat. Doctors will examine the levels of salt in your sweat to confirm a diagnosis.

Because this condition is passed from parent to children, newborn screening is routinely done in every state in the U.S. Early diagnosis of CF means that treatments can begin immediately. Unfortunately, there is no cure for cystic fibrosis, but proper treatment can ease your symptoms, reduce complications, and improve your quality of life. Doctors may decide that certain medications are necessary. These could include antibiotics to treat and prevent lung infections, anti-inflammatories to lessen the swelling in your airways, or mucus-thinning drugs to help expel mucus and improve lung function. Medications can also help improve digestive function. From stool softeners to enzymes, to acid-reducing drugs. Some medications can even target the gene defect that causes cystic fibrosis, aiding the faulty proteins to improve lung function and reduce salt in your sweat. Outside of medications, airway clearance techniques, also called chest physical therapy, can relieve mucus obstruction and help to reduce infection and inflammation in the airways. These techniques loosen the thick mucus in the lungs, making it easier to cough up. In some cases, doctors turn to surgery to help alleviate conditions that can arise from cystic fibrosis. For instance, nasal and sinus surgery to help you breathe, or bowel surgery to help improve digestive function. In life-threatening instances, lung transplant and liver transplant had been performed. Managing cystic fibrosis can be very complex. So consider getting treatment at a center with medical professionals trained in the disorder to evaluate and treat your condition. You can even ask your physician about clinical trials. New treatments, interventions and tests are constantly under development to help prevent, detect, and treat this disease.

Learning you or someone you know has cystic fibrosis can be incredibly challenging. It's okay to feel depressed, anxious, angry, or afraid. In time, you'll find ways to cope, find support and talk to others who are going through it too. Look to your friends and family to help manage stress and reduce anxiety. Seek professional help. Remember, physical conditions come with an emotional and mental burden. And take the time to learn about cystic fibrosis. It's a complicated, severe disorder. So don't hesitate to talk to your medical team about your questions or concerns. With the knowledge and treatment available to doctors today, life with cystic fibrosis is better than ever before. If you'd like to learn even more about cystic fibrosis, watch our other related videos or visit mayoclinic.org. We wish you well.

In cystic fibrosis, the airways fill with thick, sticky mucus, making it difficult to breathe. The thick mucus is also an ideal breeding ground for bacteria and fungi.

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.

Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with CF , a defective gene causes the secretions to become sticky and thick. Instead of acting as lubricants, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.

Although cystic fibrosis is progressive and requires daily care, people with CF are usually able to attend school and work. They often have a better quality of life than people with CF had in previous decades. Improvements in screening and treatments mean that people with CF now may live into their mid- to late 30s or 40s, and some are living into their 50s.

Products & Services

• A Book: Mayo Clinic Family Health Book, 5th Edition
• Newsletter: Mayo Clinic Health Letter — Digital Edition

In the U.S., because of newborn screening, cystic fibrosis can be diagnosed within the first month of life, before symptoms develop. But people born before newborn screening became available may not be diagnosed until the signs and symptoms of CF show up.

Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until their teenage years or adulthood. People who are not diagnosed until adulthood usually have milder disease and are more likely to have atypical symptoms, such as recurring bouts of an inflamed pancreas (pancreatitis), infertility and recurring pneumonia.

People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of CF affect the respiratory system and digestive system.

Respiratory signs and symptoms

The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause signs and symptoms such as:

• A persistent cough that produces thick mucus (sputum)
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages or a stuffy nose
• Recurrent sinusitis

Digestive signs and symptoms

The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines aren't able to completely absorb the nutrients in the food you eat. The result is often:

• Foul-smelling, greasy stools
• Poor weight gain and growth
• Intestinal blockage, particularly in newborns (meconium ileus)
• Chronic or severe constipation, which may include frequent straining while trying to pass stool, eventually causing part of the rectum to protrude outside the anus (rectal prolapse)

When to see a doctor

If you or your child has symptoms of cystic fibrosis — or if someone in your family has CF — talk with your doctor about testing for the disease. Consult a physician who is knowledgeable about CF .

Cystic fibrosis requires consistent, regular follow-up with your doctor, at least every three months. Contact you doctor if you experience new or worsening symptoms, such as more mucus than usual or a change in the mucus color, lack of energy, weight loss, or severe constipation.

Seek immediate medical care if you're coughing up blood, have chest pain or difficulty breathing, or have severe stomach pain and distention.

There is a problem with information submitted for this request. Review/update the information highlighted below and resubmit the form.

From Mayo Clinic to your inbox

Sign up for free and stay up to date on research advancements, health tips, current health topics, and expertise on managing health. Click here for an email preview.

Error Email field is required

Error Include a valid email address

To provide you with the most relevant and helpful information, and understand which information is beneficial, we may combine your email and website usage information with other information we have about you. If you are a Mayo Clinic patient, this could include protected health information. If we combine this information with your protected health information, we will treat all of that information as protected health information and will only use or disclose that information as set forth in our notice of privacy practices. You may opt-out of email communications at any time by clicking on the unsubscribe link in the e-mail.

Thank you for subscribing!

You'll soon start receiving the latest Mayo Clinic health information you requested in your inbox.

Sorry something went wrong with your subscription

Please, try again in a couple of minutes

In cystic fibrosis, a defect (mutation) in a gene — the cystic fibrosis transmembrane conductance regulator (CFTR) gene — changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat.

Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition.

Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis. However, they will be carriers and could pass the gene to their own children.

Risk factors

Because cystic fibrosis is an inherited disorder, it runs in families, so family history is a risk factor. Although CF occurs in all races, it's most common in white people of Northern European ancestry.

Complications

Complications of cystic fibrosis can affect the respiratory, digestive and reproductive systems, as well as other organs.

Respiratory system complications

• Damaged airways (bronchiectasis). Cystic fibrosis is one of the leading causes of bronchiectasis, a chronic lung condition with abnormal widening and scarring of the airways (bronchial tubes). This makes it harder to move air in and out of the lungs and clear mucus from the bronchial tubes.
• Chronic infections. Thick mucus in the lungs and sinuses provides an ideal breeding ground for bacteria and fungi. People with cystic fibrosis may often have sinus infections, bronchitis or pneumonia. Infection with bacteria that is resistant to antibiotics and difficult to treat is common.
• Growths in the nose (nasal polyps). Because the lining inside the nose is inflamed and swollen, it can develop soft, fleshy growths (polyps).
• Coughing up blood (hemoptysis). Bronchiectasis can occur next to blood vessels in the lungs. The combination of airway damage and infection can result in coughing up blood. Often this is only a small amount of blood, but it can also be life-threatening.
• Pneumothorax. In this condition, air leaks into the space that separates the lungs from the chest wall, and part or all of a lung collapses. This is more common in adults with cystic fibrosis. Pneumothorax can cause sudden chest pain and breathlessness. People often feel a bubbling sensation in the chest.
• Respiratory failure. Over time, cystic fibrosis can damage lung tissue so badly that it no longer works. Lung function usually worsens gradually, and it eventually can become life-threatening. Respiratory failure is the most common cause of death.
• Acute exacerbations. People with cystic fibrosis may experience worsening of their respiratory symptoms, such as coughing with more mucus and shortness of breath. This is called an acute exacerbation and requires treatment with antibiotics. Sometimes treatment can be provided at home, but hospitalization may be needed. Decreased energy and weight loss also are common during exacerbations.

Digestive system complications

• Nutritional deficiencies. Thick mucus can block the tubes that carry digestive enzymes from your pancreas to your intestines. Without these enzymes, your body can't absorb protein, fats or fat-soluble vitamins, so you can't get enough nutrients. This can result in delayed growth, weight loss or inflammation of the pancreas.
• Diabetes. The pancreas produces insulin, which your body needs to use sugar. Cystic fibrosis increases the risk of diabetes. About 20% of teenagers and 40% to 50% of adults with CF develop diabetes.
• Liver disease. The tube that carries bile from your liver and gallbladder to your small intestine may become blocked and inflamed. This can lead to liver problems, such as jaundice, fatty liver disease and cirrhosis — and sometimes gallstones.
• Intestinal obstruction. Intestinal blockage can happen to people with cystic fibrosis at all ages. Intussusception, a condition in which a segment of the intestine slides inside an adjacent section of the intestine like a collapsible telescope, also can occur.
• Distal intestinal obstruction syndrome (DIOS). DIOS is partial or complete obstruction where the small intestine meets the large intestine. DIOS requires urgent treatment.

Reproductive system complications

• Infertility in men. Almost all men with cystic fibrosis are infertile because the tube that connects the testes and prostate gland (vas deferens) is either blocked with mucus or missing entirely. Certain fertility treatments and surgical procedures sometimes make it possible for men with CF to become biological fathers.
• Reduced fertility in women. Although women with cystic fibrosis may be less fertile than other women, it's possible for them to conceive and to have successful pregnancies. Still, pregnancy can worsen the signs and symptoms of CF , so be sure to discuss the possible risks with your doctor.

Other complications

• Thinning of the bones (osteoporosis). People with cystic fibrosis are at higher risk of developing a dangerous thinning of bones. They may also experience joint pain, arthritis and muscle pain.
• Electrolyte imbalances and dehydration. Because people with cystic fibrosis have saltier sweat, the balance of minerals in their blood may be upset. This makes them prone to dehydration, especially with exercise or in hot weather. Signs and symptoms include increased heart rate, fatigue, weakness and low blood pressure.
• Mental health problems. Dealing with a chronic illness that has no cure may cause fear, depression and anxiety.

If you or your partner has close relatives with cystic fibrosis, you both may choose to have genetic testing before having children. The test, which is performed in a lab on a sample of blood, can help determine your risk of having a child with CF .

If you're already pregnant and the genetic test shows that your baby may be at risk of cystic fibrosis, your doctor can conduct additional tests on your developing child.

Genetic testing isn't for everyone. Before you decide to be tested, you should talk to a genetic counselor about the psychological impact the test results might carry.

Cystic fibrosis care at Mayo Clinic

Living with cystic fibrosis?

Connect with others like you for support and answers to your questions in the Transplants support group on Mayo Clinic Connect, a patient community.

Transplants Discussions

1568 Replies Sun, May 05, 2024

363 Replies Sun, May 05, 2024

73 Replies Wed, May 01, 2024

• Symdeko (prescribing information). Vertex Pharmaceuticals Inc.; 2019. https://www.symdeko.com/how-symdeko-works. Accessed July 1, 2019.
• Kalydeco (prescribing information). Vertex Pharmaceuticals Inc.; 2019. https://www.kalydeco.com/. Accessed July 1, 2019.
• Orkambi (prescribing information). Vertex Pharmaceuticals Inc.; 2018. https://www.orkambi.com/. Accessed July 1, 2019.
• Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis. Cochrane Database of Systematic Reviews. 2015; doi:10.1002/14651858.CD001401.pub3.
• Cystic fibrosis. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/cystic-fibrosis. Accessed July 1, 2019.
• Cystic fibrosis. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/cystic-fibrosis. Accessed July 1, 2019.
• AskMayoExpert. Cystic fibrosis. Mayo Clinic; 2017.
• Bronchiectasis. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/bronchiectasis. Accessed July 1, 2019.
• Rafeeq MM, et al. Cystic fibrosis: Current therapeutic targets and future approaches. Journal of Translational Medicine. 2017; doi:10.1186/s12967-017-1193-9.
• Cystic fibrosis. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/cystic-fibrosis-cf/cystic-fibrosis. Accessed July 1, 2019.
• Frequently asked questions: Pregnancy FAQ171: Cystic fibrosis: Prenatal screening and diagnosis. American College of Obstetricians and Gynecologists. https://www.acog.org/Patients/FAQs/Cystic-Fibrosis-Prenatal-Screening-and-Diagnosis?IsMobileSet=false. Accessed July 1, 2019.
• Simon RH. Cystic fibrosis: Treatment with CFTR modulators. https://www.uptodate.com/contents/search. Accessed July 1, 2019.
• Simon RH. Cystic fibrosis: Overview of treatment of lung disease. https://www.uptodate.com/contents/search. Accessed July 1, 2019.
• Solomon M, et al. Nutritional issues in cystic fibrosis. Clinics in Chest Medicine. 2016; doi:10.1016/j.ccm.2015.11.009.
• Savant AP, et al. Cystic fibrosis year in review 2018, part 1. Pediatric Pulmonology. 2019; doi:10.1002/ppul.24361.
• Savant AP, et al. Cystic fibrosis year in review 2018, part 2. Pediatric Pulmonology. 2019; doi:10.1002/ppul.24365.
• Brown A. Allscripts EPSi. Mayo Clinic. June 14, 2019.
• Drug trials snapshots: Trikafta. U.S. Food and Drug Administration. https://www.fda.gov/drugs/drug-approvals-and-databases/drug-trials-snapshots-trikafta. Accessed Dec. 21, 2019.
• Trikafta (prescribing information). Vertex Pharmaceuticals Inc.; 2019. https://www.trikaftahcp.com/. Accessed Nov. 5, 2019.
• Boesch RP (expert opinion). Mayo Clinic. Dec. 11, 2019.
• Kayani K, et al. Cystic fibrosis-related diabetes. Frontiers in Endocrinology. 2018; doi:10.3389/fendo.2018.00020.
• van de Peppel IP, et al. Diagnosis, follow-up and treatment of cystic fibrosis-related liver disease. Current Opinion in Pulmonary Medicine. 2017; doi:10.1097/MCP.0000000000000428.
• Care centers. Cystic Fibrosis Foundation. https://www.cff.org/Care/Care-Centers/. Accessed Nov. 20, 2019.
• Moran F, et al. Non-invasive ventilation for cystic fibrosis. Cochrane Database of Systematic Reviews. 2017; doi:10.1002/14651858.CD002769.pub5.
• Cystic fibrosis FAQs

Associated Procedures

• Genetic testing
• Home enteral nutrition
• Lung transplant

Mayo Clinic in Rochester, Minnesota, Mayo Clinic in Phoenix/Scottsdale, Arizona, and Mayo Clinic in Jacksonville, Florida, have been recognized among the top Pulmonology hospitals in the nation for 2023-2024 by U.S. News & World Report.

• Symptoms & causes
• Diagnosis & treatment
• Doctors & departments
• Care at Mayo Clinic

Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.

• Opportunities

Mayo Clinic Press

Check out these best-sellers and special offers on books and newsletters from Mayo Clinic Press .

• Mayo Clinic on Incontinence - Mayo Clinic Press Mayo Clinic on Incontinence
• The Essential Diabetes Book - Mayo Clinic Press The Essential Diabetes Book
• Mayo Clinic on Hearing and Balance - Mayo Clinic Press Mayo Clinic on Hearing and Balance
• FREE Mayo Clinic Diet Assessment - Mayo Clinic Press FREE Mayo Clinic Diet Assessment
• Mayo Clinic Health Letter - FREE book - Mayo Clinic Press Mayo Clinic Health Letter - FREE book

Your gift holds great power – donate today!

Make your tax-deductible gift and be a part of the cutting-edge research and care that's changing medicine.

Masks Strongly Recommended but Not Required in Maryland, Starting Immediately

Due to the downward trend in respiratory viruses in Maryland, masking is no longer required but remains strongly recommended in Johns Hopkins Medicine clinical locations in Maryland. Read more .

• Vaccines  
• Masking Guidelines
• Visitor Guidelines  
• Cystic Fibrosis

What is cystic fibrosis?

Cystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. It causes changes in the electrolyte transport system. People with CF have problems with the glands that make sweat and mucus. CF makes mucus thicker. Symptoms start in childhood. On average, people with CF live into their mid to late 30s. But new treatments are increasing life expectancy.

CF affects several organ systems, including:

Respiratory system

Digestive system

Reproductive system

Some people carry the CF gene without being affected by the disease. They often don't know that they are carriers.

How does CF affect the respiratory system?

With CF, there is an abnormal electrolyte transport system. The normal thin secretions in the lungs become very thick and hard to move. These thick secretions raise the risk for frequent respiratory infections.

Respiratory infections that keep coming back lead to more damage in the lungs. Over time, this causes permanent loss of lung function.

Because of the high rate of infection in the lower respiratory tract, people with CF may develop a chronic cough and blood in the sputum. The cough is often worse in the morning or after activity. They can develop lung collapse (pneumothorax).

People with CF also have upper respiratory tract symptoms. Some have nasal polyps that need surgery to be removed. Nasal polyps are small bumps of tissue from the lining of the nose. They can block and irritate the nasal cavity. People with CF also have higher rates of sinus infections.

How does cystic fibrosis affect the digestive system?

CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.

The secretions from the pancreas also become thick and can clog the ducts of the pancreas. This may cause a decrease in the secretion of enzymes from the pancreas that normally help digest food. A person with CF has trouble absorbing proteins, fats, and vitamins A, D, E, and K.

The problems with the pancreas can get so severe that some of the cells in the pancreas die. Over time, this may lead to glucose intolerance. It may also lead to cystic fibrosis-related diabetes (CFRD). This is a unique type of insulin-dependent diabetes.

Some CF symptoms may be from its effect on the digestive tract. These include:

Bulky, greasy stools

The lower end of the bowel comes out of the anus (rectal prolapse)

Delayed puberty

Fat in the stools

Stomach pain

Bloody diarrhea

The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver disease include:

Enlarged liver

Swollen belly

Yellow color to the skin (jaundice)

Vomiting blood

How does CF affect the reproductive system?

Most males with CF have blockage of the sperm canal. This is called congenital bilateral absence of the vas deferens (CBAVD). This results from the thick secretions clogging the vas deferens and keeping them from developing correctly. It causes infertility because sperm can't travel out of the body. There are some newer methods that allow men with CF to have children. Discuss these with your healthcare provider. Women with CF have an increase in thick cervical mucus that may lead to a decrease in fertility. They may also have irregular ovulation. But many women with CF are able to have children.

What causes cystic fibrosis?

CF is a genetic disease. This means that CF is inherited.

Changes (mutations) in a gene called the CFTR (cystic fibrosis transmembrane conductance regulator) gene cause CF. The CFTR mutations cause changes in the body’s electrolyte transport system. Electrolytes are substances in blood that are vital to cell function. The main result of these transport system changes is seen in the body secretions, such as mucus and sweat.

The CFTR gene is large and complex. There are many different mutations in this gene that have been linked to CF.

A person will be born with CF only if 2 CF genes are inherited: 1 from the mother and 1 from the father.

Who is at risk for cystic fibrosis?

Cystic fibrosis is inherited. A person with CF had both parents pass the changed gene to them. The birth of a child with CF is often a total surprise to a family. Most of the time there is no family history of CF. Caucasian people are more likely to have CF than people of African, Asian, or Hispanic ancestry.

What are the symptoms of cystic fibrosis?

Symptoms can be different for each person. The severity of symptoms can vary, too. Symptoms may include:

Thick mucus that clogs certain organs such as the lungs, pancreas, and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and ongoing (chronic) lung disease.

Many other health problems can point to cystic fibrosis, as well. These include:

Nasal polyps

Clubbed fingers and toes. This means thickened fingertips and toes because of less oxygen in the blood.

Collapsed lung, often due to intense coughing

Coughing up blood

Enlargement of the right side of the heart due to increased pressure in the lungs (Cor pulmonale)

Too much gas in the intestines

Liver disease

Inflammation of the pancreas (pancreatitis) that causes severe pain in the belly

Congenital bilateral absence of the vas deferens (CBAVD) in males. This causes blockages of the sperm canal.

Babies born with CF often show symptoms by age 2. But some children may not show symptoms until later in life. The following symptoms may mean a child has CF. Babies with these signs may have more testing for CF:

Diarrhea that does not go away

Bad-smelling stools

Greasy stools

Frequent wheezing

Frequent pneumonia or other lung infections

Persistent cough

Skin that tastes like salt

Poor growth despite having a good appetite

The symptoms of CF may seem like other conditions or health problems. See a healthcare provider for a diagnosis.

How is cystic fibrosis diagnosed?

All U.S. states require that newborns be tested for CF. This means that parents can know if their baby has the disease. They can take precautions and watch for early signs of problems. Most cases of cystic fibrosis are found during newborn screening. Babies will have a full health history and physical exam.

Tests for CF include a sweat test to measure the amount of salt (sodium chloride) present. This test may be used if a person has symptoms of CF or if a newborn screening suggests that a baby may have CF. Higher than normal amounts of sodium chloride suggest CF. Other tests depend on which body system is affected. These tests may include:

Chest X-rays, ultrasound, and CT scans

Blood tests

Lung function tests

Sputum cultures

Stool tests

For babies who don't make enough sweat, blood tests may be used.

How is cystic fibrosis treated?

There is currently no cure for CF. Scientists are investigating gene therapy. Some patients with advanced disease may be considered for surgeries like lung and pancreas transplant.

Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.

Treatment generally focuses on the following 2 areas.

Managing lung problems

This may include:

Physical therapy

Airway clearance therapy, including chest physical therapy, to loosen and clear mucus

Medicines to thin mucus and help breathing

Antibiotics to treat infections

Anti-inflammatory medicines

Lung transplant may be a choice for people with end-stage lung disease. The type of transplant done is often a heart-lung transplant or a double lung transplant. Not everyone is a candidate for a lung transplant. Discuss this option with your healthcare provider.

Managing digestive problems

A healthy diet that's high in calories

Pancreatic enzymes to aid digestion

Vitamin supplements

Treatments for intestinal blockages

What are possible complications of cystic fibrosis?

CF has serious complications, including:

Worsening lung function, leading to the inability to do daily activities

Lung infections

Lung collapse (pneumothorax)

Inflammation of the pancreas

Cirrhosis (liver disease)

Vitamin deficiencies

Inability for a child to grow and develop (failure to thrive)

Infertility

Cystic fibrosis-related diabetes (CFRD)

Gastroesophageal reflux disease (GERD). With this disease, stomach contents rise up into the esophagus and can cause serious damage.

Can cystic fibrosis be prevented?

Cystic fibrosis is caused by an inherited gene change (mutation). Testing for the CF gene is recommended for anyone who has a family member with the disease. It is also advised for someone whose partner is a known carrier of CF or affected with CF.

Testing for the CF gene can be done from a small blood sample. Or it can be done from a cheek swab. This is a brush rubbed against the inside of your cheek to get cells for testing. Labs generally test for the most common CF gene mutations.

There are many people with CF whose mutations have not been identified. Experts have not discovered all the genetic errors that cause CF. This means that a person can still be a CF carrier even if no mutations were found by testing. There are limits to CF testing.

Two people who are carriers of the CF gene have a 1 in 4 chance of having a child with CF. If both partners have the CF gene and are thinking about having a child, they have some choices:

Choose prenatal diagnosis. This means the baby can be checked for CF between 10 to 13 weeks and 15 to 20 weeks during pregnancy.

End a pregnancy.

Prepare to have your child with CF. Talk to healthcare providers and parents of children with CF.

Prepare to establish a treatment plan for your child with CF. Talk to healthcare providers about what your newborn's needs may be.

Don't become pregnant.

Explore surrogacy, adoption, or other ways to start a family.

Living with cystic fibrosis

If you have been diagnosed with CF, here are some ways to help manage it:

It's important to stay up-to-date with vaccines. They reduce the risk of infection. Ask your healthcare provider what vaccines you need. This may include the influenza, COVID-19, and pneumococcal vaccines.

You may need to take inhaled antibiotics for the long term to prevent lung infections.

You may need medicines to help with digestion.

Your healthcare provider may advise vitamin and mineral supplements.

The physical, emotional, and financial stress that CF places on a family is enormous. Ask your healthcare provider for resources to help support your family and manage the disease. Online and in-person family support groups and peer support groups for the person with CF can also be very helpful.

Key points about cystic fibrosis

Cystic fibrosis (CF) is an inherited life-threatening disease that affects many organs. It causes changes in the electrolyte transport system.

People with CF have problems in the glands that produce sweat and mucus.

CF causes thick mucus that clogs certain organs such as the lungs, pancreas, and intestines. This may cause malnutrition, poor growth, frequent respiratory infections, breathing problems, and chronic lung disease.

All U.S. states require that newborns be tested for CF. This is how most cases are diagnosed.

There is no cure for CF. Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.

Tips to help you get the most from a visit to your healthcare provider:

Know the reason for your visit and what you want to happen.

Before your visit, write down questions you want answered.

Bring someone with you to help you ask questions and remember what your provider tells you.

At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

Know why a new medicine or treatment is prescribed and how it will help you. Also know what the side effects are.

Ask if your condition can be treated in other ways.

Know why a test or procedure is advised and what the results could mean.

Know what to expect if you do not take the medicine or have the test or procedure.

If you have a follow-up appointment, write down the date, time, and purpose for that visit.

Know how you can contact your provider if you have questions. Ask how to contact your healthcare team on weekends, holidays, and evenings in case you have urgent concerns.

Find a Doctor

Specializing In:

Cystic Fibrosis Liver Disease

At Another Johns Hopkins Member Hospital:

• Howard County Medical Center
• Sibley Memorial Hospital
• Suburban Hospital

Find a Treatment Center

• Pediatric Cystic Fibrosis (Johns Hopkins Children's Center)

Find Additional Treatment Centers at:

Request an Appointment

Cystic Fibrosis: Sam's Story

The Cystic Fibrosis Center at Stanford

The basics of cf.

• What Is CF?

Cystic Fibrosis (CF) is one of the most common genetic (inherited) diseases in America. It is also one of the most serious. It mainly affects the lungs and the digestive systems in the body, causing breathing problems and problems digesting foods. It is a chronic disease that currently has no cure.

What Happens? Glands in the body that usually produce thin, slippery secretions (like sweat, mucous, tears, saliva, or digestive juices) produce thick, sticky secretions. These thick, sticky secretions plug up the ducts (small tubes) that should carry the secretions either outside of the body or into a hollow organ such as the lungs or the intestines. This can affect vital body functions such as breathing or digestion.

Why? CF is present at birth because both parents carried a CF gene, and their infant inherited a CF gene from each parent. Not every child from this family will necessarily have CF. Other children could inherit a single CF gene from just one parent, and thus become a carrier for CF, or they could inherit no CF gene and be completely free from CF. Since 1989, when the CF gene was first discovered, research has made great progress in understanding CF.

How is CF diagnosed? A suspicion of CF occurs when some of these symptoms are present:

• Persistent cough, wheezing, or recurrent pneumonia
• Good appetite, but poor weight gain
• Loose, bad-smelling bowel movements
• A salty taste to the skin
• Clubbing (enlarging) of the fingertips

A simple, painless test called a sweat chloride test can then be done. CF causes a large amount of salt to be lost in the sweat. Measuring the amount of salt in the sweat can determine whether or not a person has CF.

• Genetics and CF

What is a gene? A gene is the basic unit of heredity. Genes are responsible for the physical characteristics that each person has (like eye color, facial features, and many health conditions). Each gene occupies a certain location on a chromosome (a thread-like material that is located in the nucleus of every single cell in the body). Chromosomes come in 23 pairs, and each chromosome carries thousands of genes.

What happens? Each gene has a specific role in determining how a person's body is put together and how it functions. The role of a gene is determined by its individual DNA code (deoxyribonucleic acid, the chemical coding for a gene). DNA is made up of four building blocks called bases. These bases are joined in a specific order for each gene. When a change occurs in the arrangement of the bases, it can cause the gene not to work properly.

What are genetic disorders? A structural gene change which can cause a disease or a birth defect is called a mutation. Genes are inherited in pairs, with one gene inherited from each parent to make the pair. Cystic fibrosis occurs when both genes in the pair have a mutation. A person with cystic fibrosis inherits one CF gene from each parent. Cystic fibrosis is a genetic disorder caused by inheriting a pair of genes that are mutated or not working properly.

The Cystic Fibrosis Gene Everyone inherits two copies of the CFTR (cystic fibrosis transmembrane conductance regulator) gene. However, some of the inherited copies are mutations. To date, over 700 mutations of the CFTR gene have been identified. A person with CF inherits two mutated copies of the CFTR gene. These mutations can either be homozygous, the same, or heterozygous, different mutations. The most common mutation is delta F508, accounting for approximately 70% of all mutations. Those homozygous for this mutation tend to be pancreatic insufficient.

What Does the Mutation Do? The CFTR gene is a protein that functions as a chloride channel. A chloride channel helps maintain the proper balance of salt and water within a cell. A mutation in CFTR causes a dysfunction of the salt and water balance. This causes dehydration of the secretions (thick mucous) and excessive loss of salt in sweat.

What is a carrier? A carrier is a person who only has one copy of the mutated gene. The parents of a child with CF each carry one CF gene and one normal gene. They have no symptoms and no disease.

How does CF occur? When each of the parents contributes a gene to their child, they could pass on either their CF gene or their non-CF gene. Each pregnancy could result in one of three outcomes:

• A one in four (25%) chance that the child will have CF
• A two in four (50%) chance that the child will be a carrier
• A one in four (25%) chance that the child will not carry the CF gene

Can I find out if I have a CF gene? At the present time, carrier testing is available through a DNA test. If a family member has CF and the gene mutation is known, discovery of the CF gene in other family members can be made with great accuracy. If the specific mutation is not known, the test will be done on the 70%-90% of the CF genes that are most commonly found, but the test won't be 100% accurate. The screening test for people without a family history of CF will also be done on the most common gene mutations, and so cannot be said to be 100% accurate.

The Human Genome Project

• CF and the Lungs

What happens in the lungs: The lungs are like an upside down tree: the trachea is the trunk, the bronchi are the main branches, the bronchioles are smaller branches, and the alveoli are the smallest little twigs and leaves. Normally, tiny hair-like structures known as cilia remove mucus and other substances from the lungs, and bacteria are cleared out. But, because CF produces thick, sticky mucus, the cilia cannot sweep the lungs, and the bacteria remain. This brings about an immunological response from the body's white blood cells: they race to the scene, fight with bacteria, and promptly die… leaving their remains which also contribute to the stickiness of the mucus. Mucus then builds up in the lungs, and lung function starts to drop. It is this residual infection and poor lung functioning that can cause permanent lung damage over time.

What treatment can be done: The basic daily care program varies to suit individual needs. These are some common pulmonary therapy treatments:

• First an inhaled medication to open up the lung passages
• Then an airway clearance technique to mobilize the thick mucus from the lungs
• Finally medications, if prescribed, to treat infection or help thin mucous

Common Airway Clearance Techniques:

• Chest Physical Therapy: Using cupped hands to clap on the back and chest
• Percussor: A hand-held device that assists in the mobilization of bronchial secretions by manually/mechanically "clapping" the chest wall.
• Flutter: A pocket device that provides positive expiratory pressure (PEP) therapy. It looks like a fat pipe. Inside the pipe is a plastic cone cradling a steel ball sealed with a perforated cover. Exhaling through your mouth into the flutter with a moderate force causes the ball to oscillate (move back and forth) in the pipe. Oscillation is transmitted throughout the airways, loosening secretions.The force of exhalation helps to mobilize secretions.
• ThAIRapy Vest: Known as high frequency chest compression (HFCC), this device is worn like a vest. It works in two ways: the chest wall is vibrated to break up sputum, then chest wall oscillation causes outward airflow, like a miniature cough.
• Autogenic drainage uses the patient's own airflow to mobilize secretions, through controlled, graduated inspiratory and expiratory maneuvers. This technique, though sometimes difficult to learn and do correctly, does not require any assistive devices.
• Active Cycle of Breathing (ACB) Technique is another alternative form of CPT which requires no percussion. This method requires training with a respiratory therapist to perform properly. ACB is combined with a forced expiratory technique (which uses "huffing" from various lung volumes to assist in removal of secretions) and thoracic expansion exercises.
• Intrapulmonary Percussive Ventilation (IPV) is an airway clearance technique that uses compressed gas to deliver a series of pressurized gas minibursts to the respiratory tract usually by a mouthpiece. The IPV device is a pressurized aerosol machine that delivers aerosolized medications through a mouthpiece under pressure and with oscillations that vibrate the chest and loosen airway secretions.
• Lung Infections

What Is an Infection? An infection occurs when pathogenic microorganisms (like bacteria, viruses, or fungi) invade tissues where they don't belong.

What happens in an infection?

• Invaded by these unfriendly organisms, the tissue becomes inflamed, the normal reaction of tissue to injury. Inflammation is characterized by heat, swelling, redness, and pain.
• The invading microorganisms damage lung tissue. Damaged cells send out chemical messages to the body, called chemotactic substances. These chemical messages initiate the body's immune response.
• The immune response attempts to eliminate the invading microorganisms by increasing blood flow to the infected tissues and by mobilizing specialized white blood cells (phagocytes & lymphocytes) to travel to the infected area and attack the invaders.
• As in any battle, many organisms die. These dead cells can accumulate in the lungs in the form of increased mucus.

Why Do People with CF have to worry about all this? People with CF have thick mucus which can trap microorganisms in the lungs. Thick mucus is hard to remove, so the microorganisms remain in the lungs, growing and reproducing. Once these organisms are established in the lungs, there are more frequent lung infections. Infection weakens the body and the immune system. Repeated infections initiate a cycle of inflammation and infection which soon becomes a chronic condition.

What are the consequences of chronic lung inflammations and infection?

• Tissue damage: microorganisms damage tissue during their invasion, but some of the white blood cells can also damage lung tissue as they attempt to destroy the invading microorganisms.
• Thickened mucus: dead cells can accumulate in the lungs, adding to and thickening the mucus and making it harder to remove.
• Swelling: inflammation of the airways tissue causes swelling which decreases the size of the passageways, making it more difficult to clear mucus.
• Fibrosis: after repeated damage to the lungs, connective tissue forms around the airways… this is fibrosis… this process can decrease lung elasticity and reduce lung function.
• CF and the Digestive System

What is the digestive system? The mouth is the start of the digestive system. Saliva starts the digestive process. Food is chewed, swallowed, passes down the esophagus into the stomach where more digestion occurs. But, most digestion occurs in the small intestine. It is here that enzymes help break down food so that it can be absorbed into the bloodstream and used for energy. Enzymes are secreted by the pancreas, a small gland located just above the small intestine. The main job of the pancreas is to secrete these enzymes; it also is the place where insulin is made. After enzymes have broken the food down it is absorbed. Any food not broken down passes into the large intestine and is excreted.

What happens in CF? Mucous plugs can block the pancreas and prevent enzymes from entering the small intestine, which leads to improper digestion of foods. Without these digestive juices, the intestines cannot absorb fats and proteins completely, so nutrients pass out of the body unused. The stools become very large, lighter in color, greasy, and will float on top of the water in the toilet. Unabsorbed fats may also cause excessive intestinal "gas," an abnormally swollen belly, and abdominal pain or discomfort. Weight loss or difficulty maintaining adequate weight can occur. Not all people with CF are pancreatic insufficient.

What can be done? In general, the same wholesome foods you would give anyone, child or adult, are suitable for the person with CF. The difference will arise in the quantities that are required and the supplements (vitamins and enzymes) needed to ensure sufficient calories. Sometimes there is a need to add salt to replace what is lost in sweat.

Vitamins: Because of the incomplete digestion of fats, fat-soluble vitamins (A, D, E, and K) may be poorly absorbed. Water-soluble supplements are recommended, with the dose varying according to age.

Enzymes: People with CF can take doses of pancreatic enzymes by mouth to help them digest foods better. Pancreatic enzymes help the body absorb nutrients from food, and reduce both the number and bulk of stools, and the amount of flatulence, abdominal pain, and distension.

Minerals: Since large amounts of sodium and chloride are lost in sweat, salt and salty foods are recommended for all ages. Salt tablets, however, aren't usually prescribed.

Oral supplements: Even with enzyme supplements, people with CF absorb food less efficiently. Some may use oral supplements to augment their total caloric intake.

Glossary of Terms

Airway Clearance The removal of mucus secretions from the lungs by coughing or other methods.

Anti-inflammatory Something that stops swelling

Antibiotics Medicines that kill bacteria (not viruses)

Bronchodilator Medicine that opens and relaxes the lungs to aid breathing.

Carrier Someone that has one CF gene instead of two. They do not have CF but can give it to their child. For a child with CF, each parent either has CF (two CF genes) or is a carrier (one CF gene).

Chest clearance therapies Treatments to clear lung mucus (chest physiotherapy, the Vest™, the Flutter®, Acapella™, etc.).

Chest physiotherapy (CPT) Treatment to break up and loosen lung mucus so that it can be coughed out.

Chronic Lasting a long time. CF is a chronic disease. The opposite of "chronic" is "acute".

Ducts Tubes or pathways for secretions. Ducts are found in organs, organ systems, and glands. In CF, thick mucus can clog ducts and block secretions.

Enzymes Enymes help to break down foods during digestion. In CF, mucus can block the tube that carries enzymes from the pancreas to the food. People with CF may take extra enzymes to help digest their food.

Gastrointestinal Relating to the stomach and intestines

Gene The basic unit of heredity. Genes decide a big part of what people are like (eye color, looks, height, health). CF is caused by a defect of a gene. If the Dad's sperm has a CF gene and the Mom's egg has a CF gene, the child will have CF.

Genetic Having to do with genes (See "Gene"). A trait passed on from one family member to another.

Germs Viruses or bacteria

Glands A cell, group of cells, or organ that makes a secretion for use in the body

Hormone A secretion of certain glands. Hormones manage body functions like growth, maturing, and heart rate. Hormones are not affected by CF.

Immunizations Shots needed to protect from illness

Infection control Stopping the spread of illness by washing, cleaning, avoiding sick people, etc.

Inflammation The swelling of body tissues due to irritation or injury. Inflammation is a process by which the body's white blood cells and chemicals protect us from infection and foreign substances such as bacteria and viruses. Inflammation occurs with an infection.

Intestinal blockage Something that blocks the flow of food or feces in the intestines

Malabsorption Poor uptake of nutrients from food for use by the body. In CF, mucus can plugs the ducts that carry the enzymes and hormones used in digestion. The body can't digest food as well so doesn't get the nutrients from the food. The body needs nutrients for health and growth. A common symptom of CF is failure to thrive.

Median The middle point in a line of values. Above and below the median are an equal number of values. In "1   4   5   9   12", "5" is the median. Two numbers are above the 5, and two numbers are below it.

Mucus A thin, slippery fluid made by mucus membranes and glands. In CF, mucus is often thick and sticky.

Nutrition supplements Pills, fluids, snacks, and drinks that give the body extra nutrition.

Pancreas Long gland-like organ found behind the stomach. The duct part of the pancreas secretes enzymes into the intestine to help break down food. In CF, mucus may clog the ducts and block digestion. The other part of the pancreas contains endocrine tissue, which makes the hormone insulin. Insulin controls how the body uses and stores sugar.

Pancreatic duct See "Pancreas"

Pancreatic Enzyme Supplements See "Enzymes"

Secretions See "Mucus"

On This Page

About Cystic Fibrosis

Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. 

There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group.

There are many misconceptions about CF. Learn the facts on our page, Dispelling Misconceptions About Cystic Fibrosis .

In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.

In the lungs , the mucus clogs the airways and traps germs, like bacteria, leading to infections , inflammation , respiratory failure, and other complications. For this reason, avoiding germs is a top concern for people with CF.

In the pancreas , the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients , resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children .

Understand how the cystic fibrosis transmembrane conductance regulator (CFTR) affects the GI system.

Today, because of improved medical treatments and care, more than half of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond. 

Read the Foundation's Patient Registry Reports .

People with CF can have a variety of symptoms, including:

• Very salty-tasting skin
• Persistent coughing, at times with phlegm
• Frequent lung infections including pneumonia or bronchitis
• Wheezing or shortness of breath
• Poor growth or weight gain in spite of a good appetite
• Frequent greasy, bulky stools or difficulty with bowel movements
• Nasal polyps
• Chronic sinus infections
• Clubbing or enlargement of the fingertips and toes
• Rectal prolapse
• Male infertility

Learn more about CF — from diagnosis to living with the disease as an adult — in " An Introduction to Cystic Fibrosis: For Patients and Their Families ," or watch the video series.

Jay, a 6-year-old with CF

Listen to CF clinicians explain:

• Which body parts are affected by CF
• Common CF symptoms
• How CF is treated

Cystic fibrosis is a genetic disease . People with CF have inherited two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.

People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:

• 25 percent (1 in 4) the child will have CF
• 50 percent (1 in 2) the child will be a carrier but will not have CF
• 25 percent (1 in 4) the child will not be a carrier and will not have CF

The defective CF gene contains a slight abnormality called a mutation . There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.

Diagnosing cystic fibrosis is a multistep process, and should include a:

• Newborn screening

Genetic or carrier test

• Clinical evaluation at a CF Foundation-accredited care center

Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.

Read the CF Foundation’s clinical care guidelines for diagnosing CF .

I grew up wondering why I felt sick every day. As doctors suggested unlikely diseases, such as hormonal disorders, kidney disease, lupus, and depression, I felt I was further from an answer. Then, my ENT suggested CF, a disease I had never heard of. As he described what he knew about CF, it matched all of my symptoms and promised the answer I had been looking for my whole life.” — Katie K., an adult with CF, from the Community Blog

According to the Cystic Fibrosis Foundation Patient Registry, in the United States:

• There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries).
• Approximately 1,000 new cases of CF are diagnosed each year.
• More than 75 percent of people with CF are diagnosed by age 2.
• More than half of the CF population is age 18 or older.

Did you know?

More than half of the cystic fibrosis population is over 18.

Cystic fibrosis is a complex disease. The types of symptoms and how severe they are can differ widely from person to person. Many different factors can affect a person's health and the course the disease runs, including your age when you are diagnosed.

        View this post on Instagram                       A post shared by Cystic Fibrosis Foundation (@cf_foundation)

The Outlook

Tremendous advancements in specialized CF care have added years and improve the quality of the lives of people with cystic fibrosis. During the 1950s, a child with CF rarely lived long enough to attend elementary school. Today, many people with CF achieving their dreams of attending college , pursuing careers, getting married, and having kids .

Although there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short.

The types of CF symptoms and how severe they are can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each person's unique needs.

Tré, a 24-year-old with CF, wearing his vest.

People with CF and their families have expertise in how the disease affects them and how their daily lives affect the way they approach their care. By acknowledging each other's expertise, people with CF, their families, and clinical care teams can work together to develop treatment plans that align personal life goals with health goals.

“My doctor and I decided to come up with a plan that would work for me. We were able to negotiate a deal so that I was doing more treatments than I had been, but I wasn’t just sitting at home hooked up to machines.” — Betsy Sullivan, a teenager with CF, from the CF Community Blog

Each day, people with CF complete a combination of the following therapies:

• Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.
• Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer and include antibiotics to fight lung infections and therapies to help keep the airways clear.
• Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with CF also usually take multivitamins.
• An individualized fitness plan to help improve energy, lung function, and overall health
• CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

Support From the CF Foundation

The CF Foundation supports people with CF by:

• Accrediting more than 130 care centers . These centers are staffed by dedicated health care professionals who provide expert CF care and specialized disease management.
• Supporting research to discover and develop new CF treatments and maintaining a pipeline of potential therapies that target the disease from every angle.

Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF — including those with rare and nonsense mutations  — and pursuing daring, new opportunities to one day develop a lifelong cure.

When a group of parents started the Cystic Fibrosis Foundation in 1955, there were no treatments for cystic fibrosis. These parents set their sights high, to:

• Advance understanding of this little-known disease
• Create new treatments and specialized care for their children
• Find a cure

In the following years, the fundraising and commitment of the CF community has enabled the Foundation to support fundamental research in the laboratory that has led to groundbreaking discoveries , including identifying the gene and protein responsible for cystic fibrosis. By expanding our knowledge of the underlying biology of the disease and its effect on the body, researchers have paved the way for creating new treatments .

The Foundation's steadfast commitment to advancing CF research has helped enable more than a dozen new treatments for the disease. We have made incredible progress, including the approvals by the U.S. Food and Drug Administration (FDA) of Kalydeco ® (ivacaftor), Orkambi ®  (lumacaftor/ivacaftor), Symdeko ®  (tezacaftor/ivacaftor), Trikafta ® (elexacaftor/tezacaftor/ivacaftor), Cayston ®  (aztreonam), and TOBI ®  (tobramycin).

Watch this video to see how clinical research has made a difference in the lives of people with CF.

Research by dedicated scientists and clinicians from a wide range of disciplines advances our understanding of cystic fibrosis every day, helping to shape clinical care practices for people living with the disease for years to come. These include studies conducted using patient data in the CF Foundation's Patient Registry , which are helping us identify trends and track the effectiveness of treatments.

From bench to bedside, the Foundation is supporting the best research here and abroad to improve the quality of life of people with CF today and increase the speed of innovative research and drug development to add tomorrows. Two major initiatives will help us in this mission.

Since the launch of the  Infection Research Initiative in 2018, the Foundation has funded more than $100 million to this comprehensive effort to improve the detection, diagnosis, prevention, treatment, and outcomes of CF-related infections. The Foundation also is actively pursuing and funding a broad portfolio of new treatments for other complications of the disease , such as inflammation, excessive mucus, gastrointestinal problems, and cystic fibrosis-related diabetes.

The second major initiative is the Path to a Cure , an ambitious research agenda to deliver treatments for the underlying cause of the disease and a cure for every person with CF. The Foundation is challenging potential collaborators to submit proposals that will accelerate the pace of progress in CF drug discovery and development and intends to allocate $500 million to the effort through 2025. The Path to a Cure centers around two core strategies to address the underlying cause of CF: restoring CFTR protein when none exists and fixing or replacing the underlying genetic mutation to address the root cause of CF. 

By pursuing these bold strategies and others, the CF Foundation continues to build a robust pipeline of potential new therapies that fight the disease from every angle. Learn more about the CF Foundation's key research programs:

• Research We Fund : See a snapshot of how the CF Foundation is funding cystic fibrosis research.
• CF Foundation Therapeutics Laboratory : Based in Lexington, Mass., the CF Foundation Therapeutics Laboratory identifies and tests potential groundbreaking therapies for CF, readying them for further development.
• Therapeutics Development Network : The Therapeutics Development Network is the largest CF clinical trials network in the world. It provides the resources and support for studies that are leading to important new therapies and better treatments.
• Drug Development Pipeline : Discoveries from the laboratory are being turned into potential drugs that attack both the symptoms of CF and the cause — a faulty gene that makes a defective protein.
• Research Centers : These CF "think tanks" are located at top universities and medical schools across North America, where scientists from many disciplines are brought together to combine their expertise to find a cure for CF.

An official website of the United States government

Here’s how you know

Official websites use .gov A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS A lock ( A locked padlock ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

• Heart-Healthy Living
• High Blood Pressure
• Sickle Cell Disease
• Sleep Apnea
• Information & Resources on COVID-19
• The Heart Truth®
• Learn More Breathe Better®
• Blood Diseases and Disorders Education Program
• Publications and Resources
• Blood Disorders and Blood Safety
• Sleep Science and Sleep Disorders
• Lung Diseases
• Health Disparities and Inequities
• Heart and Vascular Diseases
• Precision Medicine Activities
• Obesity, Nutrition, and Physical Activity
• Population and Epidemiology Studies
• Women’s Health
• Research Topics
• Clinical Trials
• All Science A-Z
• Grants and Training Home
• Policies and Guidelines
• Funding Opportunities and Contacts
• Training and Career Development
• Email Alerts
• NHLBI in the Press
• Research Features
• Past Events
• Upcoming Events
• Mission and Strategic Vision
• Divisions, Offices and Centers
• Advisory Committees
• Budget and Legislative Information
• Jobs and Working at the NHLBI
• Contact and FAQs
• NIH Sleep Research Plan
• < Back To Health Topics
• Cystic Fibrosis
• What Is Cystic Fibrosis?
• Living With
• How Cystic Fibrosis Affects Fertility and Pregnancy

MORE INFORMATION

Cystic Fibrosis What Is Cystic Fibrosis?

Language switcher.

Normal mucus is slippery and protects the airways, digestive tract, and other organs and tissues. Cystic fibrosis causes mucus to become thick and sticky. As mucus builds up, it can cause blockages, damage, or infections in affected organs.

Cystic fibrosis used to cause death in childhood. Survival has improved because of medical discoveries and advances in newborn screening , medicines, nutrition, and lung transplants . Nearly 40,000 children and adults in the United States and more than 100,000 worldwide are now living with cystic fibrosis. Children born between 2018 and 2022 who have cystic fibrosis are expected to live an average of 56 years. On average, half of babies born in 2021 with cystic fibrosis are expected to reach the age of 65 or older.

Many people believe that only people who are white get cystic fibrosis. But the disease can occur in anyone and sometimes gets missed in people who are Black or Hispanic or have Asian ancestry, including from China, India, Indonesia, Iran, Japan, Korea, Pakistan, and Vietnam.

Some people who have cystic fibrosis have few or no symptoms , while others experience severe symptoms or life-threatening complications . The most serious and common complications of cystic fibrosis are problems with the lungs, including frequent pulmonary or respiratory exacerbations , typically caused by serious lung infections.

Your healthcare provider will recommend treatments to improve lung function and prevent or manage complications. Treatment can improve your quality of life and help you live longer.

Cystic Fibrosis

• First Online: 24 November 2011

Cite this chapter

• Dubhfeasa Maire Slattery MD, PhD 2 &
• Veronica Donoghue FRCR, FFR, RCSI 3  

1958 Accesses

Cystic fibrosis is a complex, multiorgan disorder primarily affecting the respiratory and gastrointestinal tract, pancreas and hepatobiliary system. It has an incidence of approximately 1 in 2,500 births. Presentation of cystic fibrosis varies according to age. The commonest presentation of cystic fibrosis is with recurrent respiratory tract infections ± associated failure to thrive, secondary to pancreatic exocrine insufficiency. Eighty-five percent of people with cystic fibrosis are pancreatic insufficient and without treatment they malabsorb fat and present with failure to gain weight, abdominal cramps, abdominal distension and steatorrhea. Ten to fifteen percent of cystic fibrosis presentations are in the neonatal period with meconium ileus which may lead to bowel obstruction, perforation and peritonitis. Older children may present with finger clubbing and respiratory symptoms, nasal polyps or acute pancreatitis.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

• Available as PDF
• Read on any device
• Instant download
• Own it forever
• Available as EPUB and PDF
• Compact, lightweight edition
• Dispatched in 3 to 5 business days
• Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Matsui H, Grub BR, Tarran R, Randell SH, Gatzy JT, Davis CW, et al. Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell. 1998;95:1005–15.

Article   PubMed   CAS   Google Scholar  

Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066–73.

Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073–80.

Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059–65.

Cystic fibrosis genetic analysis consortium. Cystic fibrosis mutation data base. www.genet.sickkids.on.ca/cftr/Published (1989). Updated 2 March 2007. Accessed 29 May 2011

Cleveland RH, Zurakowski D, Slattery D, Colin AA. Cystic fibrosis genotype and assessing rates of decline in pulmonary status. Radiology. 2009;253:813–21.

Article   PubMed   Google Scholar  

Le Grys VA. Sweat testing for the diagnosis of cystic fibrosis: practical considerations. J Pediatr. 1996;129:892–7.

Article   Google Scholar  

Monaghan KG, Feldman GL. The risk of cystic fibrosis with prenatally detected echogenic bowel in an ethnically and socially diverse North American population. Prenat Diagn. 1999;19:604–9.

Cleveland RH, Neish AS, Zurakowski D, Nichols DP, Wohl ME, Colin AA. Cystic fibrosis: a system for assessing and predicting progression. Am J Roentgenol. 1998;170:1067–72.

CAS   Google Scholar  

Cleveland RH, Neish AS, Zurakowski D, Nichols DP, Wohl ME, Colin AA. Cystic fibrosis: predictors of accelerated decline and distribution of disease in 230 patients. Am J Roentgenol. 1998;171:1311–5.

Slattery DM, Zurakowski D, Colin AA, Cleveland RH. CF: an X-ray database to assess effect of aerosolized tobramycin. Pediatr Pulmonol. 2004;38(1):23–30.

Bhalla M et al. Cystic fibrosis: scoring system with thin section. CT Radiology. 1991;179:783–8.

Canadian Cystic Fibrosis Foundation. Report of the Canadian Patient Data registry 2002. Toronto, Ontario, 2002

Google Scholar  

Cystic fibrosis foundation. Patient Registry 2004 Annual Report. Bethesda, Maryland, 2005

Dodge JA, Lewis PA, Stanton M, Wilsher J. Cystic fibrosis mortality and survival in the UK: 1947–2003. Eur Respir J. 2007;29:522–6.

Wang EE, Prober CG, Manson B, et al. Association of respiratory viral infection with pulmonary deterioration in patients with cystic fibrosis. N Engl J Med. 1984;311:1653–8.

Abman SH, Ogle JW, Butler-Somin N, et al. Role of ­respiratory syncytial virus in early hospitalization for respiratory distress of young infants with cystic fibrosis. J Pediatr. 1988;113:826–30.

Smyth AR, Smyth RL, Tong CY, et al. Effect of respiratory virus infections, including rhinovirus on clinical status in cystic fibrosis. Arch Dis Child. 1995;73:117–20.

Wat D, Doull I. Respiratory virus infections in cystic fibrosis. Pediatr Respir Rev. 2003;4:172–7.

Ramsey BW, Gore EJ, Smith AL, et al. The effect of respiratory viral infections on patients with cystic fibrosis. Am J Dis Child. 1989;143:662–8.

PubMed   CAS   Google Scholar  

Hiatt PW, Grace SC, Kozinetz CA, et al. Effects of viral lower respiratory infection on lung function in infants with cystic fibrosis. Pediatrics. 1999;103:619–26.

Peterson NT, Hoiby N, Mordhorst CH, et al. Respiratory infections in cystic fibrosis patients caused by virus, Chlamydia and mycoplasma: possible synergism with Pseudomonas aeruginosa . Acta Paediatr Scand. 1981;70:623–8.

Collinson J, Nicholson KG, Cancio JB, et al. Effects of upper respiratory tract infections in patients with cystic fibrosis. Thorax. 1996;51:1115–22.

Abman SH, Ogle JW, Harbeck RJ, et al. Early bacteriologic, immunologic and clinical courses of young infants with cystic fibrosis identified by neonatal screening. J Pediatr. 1991;119:211–7.

Pribble CG, Black PG, Bosso A, et al. Clinical manifestations of exacerbations of cystic fibrosis associated with nonbacterial infections. Pediatrics. 1990;117:200–4.

Article   CAS   Google Scholar  

Conway SP, Simmonds EJ, Littlewood JM. Acute severe deterioration in cystic fibrosis associated with influenza A virus infection. Thorax. 1991;47:112–4.

Bhalla P, Tan A, Smyth R. Vaccines for preventing influenza in people with cystic fibrosis. The cochrane database of systemic reviews 2000. Issue 1. Art. no. CD001753

Armstrong DS, Grimwood K, Carlin JB, et al. Lower ­airway inflammation in infants and young children with cystic fibrosis. Am J Respir Crit Care Med. 1997;156:1197–204.

Rosenfeld M, Gibson RL, McNamara S, et al. Early pulmonary infection, inflammation and clinical outcomes in infants with cystic fibrosis. Pediatr Pulmonol. 2001;32:356–66.

Balough K, McCubbin M, Weinberger M, et al. The relationship between infection and inflammation in the early stages of lung disease from cystic fibrosis. Pediatr Pulmonol. 1995;20:63–70.

Chimiel JF, Berger M, Konstan MW. The role of inflammation in the pathophysiology of C.F. lung disease. Clin Rev Allergy Immunol. 2002;23:5–27.

Bradley J, McAlister O, Elborn JS. Pulmonary function, inflammation, exercise capacity and quality of life in cystic fibrosis. Eur Resp J. 2001;17:712–5.

Lyczak JB, Cannon CL, Peir GM. Lung infections associated with cystic fibrosis. Clin Microbiol Rev. 2002;15:194–222.

Demko CA, Byard PJ, Davis PB. Gender differences in cystic fibrosis: Pseudomonas aeruginosa infection. J Clin Epidemiol. 1995;48:1041–9.

Parad RJ, Gerard CJ, Zurakowski D, et al. Pulmonary outcome in cystic fibrosis in influenced primarily by mucoid Pseudomonas aeruginosa infection and immune status and only modestly by genotype. Infec Immun. 1999;67:4744–50.

Courtney JM, Ennis M, Elborn JS. Cytokines and inflammatory mediators in cystic fibrosis. J Cyst Fibros. 2004;3:223–31.

Watt AP, Courtney J, Moore J, et al. Neutrophil cell death, activation and bacterial infection in Cystic Fibrosis. Thorax. 2005;60:659–64.

Cheng K, Smyth RL, Govan JR, et al. Spread of a beta-lactam resistant Pseudomonas aeruginosa in a cystic fibrosis clinic. Lancet. 1996;348:639–42.

Jones AM, Webb AK, Govan JR, et al. Pseudomonas aeruginosa cross-infection in cystic fibrosis. Lancet. 2002;359:527–8.

O’Carroll MR, Syrmis MW, Wainwright CE, et al. Clonal strains of pseudomonas aeruginosa in pediatric and adult cystic fibrosis units. Eur Resp J. 2004;24:101–6.

Jones AM, Dodd ME, Govan JR, et al. Prospective surveillance for Pseudomonas aeruginosa cross-infection at a cystic fibrosis center. Am J Respir Crit Care Med. 2005;171:257–60.

Ojeniyi B, Frederiksen B, Hoiby N. Pseudomonas aeruginosa cross-infection among patients with cystic fibrosis during a winter camp. Pediatr Pulmonol. 2000;29:177–81.

Stutman HR, Lieberman JM, Nussbaum E, Marks MI. Antibiotic prophylaxis in infants and young children with cystic fibrosis: a randomized controlled trial. J Pediatrics. 2002;140:299–305.

Gibson RL, Burns J, Ramsey BW. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Resp Crit Care Med. 2003;168:918–51.

Elborn JS. Treatment of Staphylococcus aureus in cystic fibrosis. Thorax. 1999;54:377–8.

Conway S, Denton M. Staphylococcus aureus and MRSA. Prog Respir Res. 2006;34:153–9.

Mc Manus TE, Moore JE, Crowe M, et al. A comparison of pulmonary exacerbations with single and multiple organisms in patients with cystic fibrosis and chronic Burkholderia cepacia infection. J Infect. 2003;46:56–9.

Koch C, Hoiby N. Diagnosis and treatment of cystic fibrosis. Respiration. 2000;67:239–47.

Beardsmore CS, Thompson JR, Williams A, et al. Pulmonary function in infants with cystic fibrosis: the effect of antibiotic treatment. Arch Dis Child. 1994;71:133–7.

Marshall BC. Pulmonary exacerbations in cystic fibrosis: it’s time to be explicit! Am J Respir Crit Care Med. 2004;169:781–2.

Weaver LT, Green MR, Nicholson K, et al. Prognosis in cystic fibrosis treated with continuous flucloxacillin from the neonatal period. Arch Dis Child. 1994;70:84–9.

Miall LS, McKinley NT, Brownlee KG, Conway SP. Methicillin-resistant Staphylococcus aureus (MRSA) infection in cystic fibrosis. Arch Dis Child. 2001;84:160–2.

Thomas SR, Gyi KM, Gaya H, Hodson ME. Methicillin-resistant Staphylococcus aureus: impact at a national cystic fibrosis centre. J Hosp Infect. 1998;40:203–9.

Palvecino E. Community acquired MRSA infections. Clin Lab Med. 2004;24:403–18.

Garske LA, Kid TJ, Gan R, et al. Rifampicin and sodium fusidate reduces the frequency of methicillin-resistant Staphylococcus aureus (MRSA) isolation in adults with cystic fibrosis and chronic MRSA infection. J Hosp Infect. 2004;56:208–14.

Henry DA, Campbell MR, LiPuma JJ, Speert DP. Identification of Burkholderia cepacia isolates from patients with cystic fibrosis and use of a simple new selective medium. J Clin Microbiol. 1997;35:614–9.

McMenamin JD, Zaccone TM, Coenye T, et al. Misidentification of Burkholderia cepacia in US cystic fibrosis treatment centres: an analysis of 1051 recent sputum isolates. Chest. 2000;117:1661–5.

Govan JR, Brown PH, Maddison J, et al. Evidence for transmission of Pseudomonas cepacia by social contact in cystic fibrosis. Lancet. 1993;342:15–9.

McCloskey M, McCaughern J, Redmond AOB, Elborn JS. Clinical outcome after acquisition of Burkholderia cepacia in patients with cystic fibrosis. Irish J Med Sci. 2001;170:28–31.

Courtney JM, Dunbar KEA, McDowell A, et al. Clinical outcome of Burkholderia cepacia complex infection in cystic fibrosis adults. J Cys Fibros. 2004;3:93–8.

Frangolias DD, Mahenthiralingam E, Rae S, et al. Burkholderia cepacia in cystic fibrosis: variable disease course. Am J Respir Crit Care Med. 1999;160:1572–7.

DeSoyza A, McDowell A, Archer L, et al. Burkholderia cepacia complex genomovars and pulmonary transplantation outcomes in patients with cystic fibrosis. Lancet. 2001;358:1780–1.

Aris RM, Routh JC, LiPuma JJ, et al. Lung transplantation for cystic fibrosis patients with Burkholderia cepacia complex: survival linked to genomovar type. Am J Respir Crit Care Med. 2001;164:2102–6.

Jones AM, Dodd ME, Govan JRW, et al. Burkholderia cenocepacia and Burkholderia multivorans: influence on survival in cystic fibrosis. Thorax. 2004;59:948–51.

Olivier KN, Weber DJ, Wallace RJ, et al. Non-tuberculous mycobacteria :I: Mulitcenter prevalence study in cystic fibrosis. Am J Respir Crit Care Med. 2003;167:828–34.

American Thoracic Society. Diagnosis and treatment of disease caused by non- tuberculous mycobacteria. [This official statement of the American Thoracic Society was approved by the board of directors, March1997.]. Am J Respir Crit Care Med. 1997;156:S1–25.

Martinez S, Page McAdams H, Batchu CS. The many faces of pulmonary nontuberculous mycobacterial infection. Am J Roentgenol. 2007;199:177–86.

Olivier KN, Weber DJ, Lee JH, et al. Non-tuberculous mycobacteria.II: nested– cohort study of impact on cystic fibrosis lung disease. Am J Respir Crit Care Med. 2003;167:835–40.

Cullen A, Cannon CL, Mark EJ, Colin AA. Mycobacteria abscessus infection in cystic fibrosis. Colonization or infection? Am J Resp Crit Care Med. 2000;161((2 pt 1)):641–5.

Schidlow DV, Taussig LM, Knowles MR. Cystic fibrosis foundation consensus conference report on pulmonary complications of cystic fibrosis. Pediatr Pulmonol. 1993;15:187–98.

Fairfax AJ, Ball J, Batten JC, et al. A pathological study following bronchial artery embolisation for haemoptysis in cystic fibrosis. Br J Dis Chest. 1980;74:345–52.

Sweezey NB, Fellows KE, Boat TF, et al. Treatment and prognosis of massive haemoptysis in cystic fibrosis. Am Rev Respir Dis. 1978;117:825–8.

Stern RC, Wood RE, Boat TF, et al. Treatment and prognosis of massive severe hemoptysis in cystic fibrosis. Am Rev Respir Dis. 1978;117:825–8.

Cohen AM. Haemoptysis: role of angiography and embolisation. Pediatr Pulmonol. 1992;8(Suppl):85–6.

Barben J, Robertson D, Olinsky A, et al. Bronchial artery embolisation in young patients with cystic fibrosis. Radiology. 2002;224:124–30.

Flume PA, Yankaskas JR, Ebeling M, et al. Massive hemoptysis in cystic fibrosis. Chest. 2005;128:729–38.

Penketh AR, Knight RK, Hodson ME, et al. Management of pneumothorax in adults with cystic fibrosis. Thorax. 1982;37:850–3. otic-associated.

Northfield TC. Oxygen therapy for spontaneous pneumothorax. Br Med J. 1971;4(5779):86–8.

Spector ML, Stern RC. Pneumothorax in cystic fibrosis: a 26-year experience. Ann Thorac Surg. 1989;47:204–7.

Flume PA, Strnage C, Ye X, et al. Pneumothorax in cystic fibrosis. Chest. 2005;128:720–8.

Mastella G, Rainisio M, Harms HK, et al. For the epidemiologic registry of cystic fibrosis. allergic broncho-pulmonary aspergillosis in cystic fibrosis: a european epidemiological study. Eur Resp J. 2000;16:464–71.

Geller DE, Kaplowitz H, Light MJ, Colin AA. For the scientific advisory group, investigators and coordinators of the epidemiologic study of cystic fibrosis. allergic broncho-pulmonary aspergillosis in cystic fibrosis: reported prevalence, regional distribution and patient characteristics. Chest. 1999;116:639–46.

Stevens DA, Moss RB, Kurup VP, et al. Allergic broncho-pulmonary aspergillosis in cystic fibrosis: state of the art: cystic Fibrosis Consensus Conference. Clin Infect Dis. 2003;37 Suppl 3:S225–64.

Cystic Fibrosis Trust. 2002. http://www.cftrust.org.uk/aboutcf/publications/consensusdoc/accessed 2010

Wark P. Pathogenesis of allergic broncho-pulmonary aspergillosis and an evidence- based review of azoles in treatment. Respir Med. 2004;98:915–23.

Stevens DA, Schwartz HJ, Lee JY, et al. A randomized trial of itraconazole in allergic broncho-pulmonary aspergillosis. N Eng J Med. 2000;342:756–62.

Wark PA, Hensley MJ, Saltos N, et al. Anti-inflammatory effect of itraconazole in stable allergic bronchopulmonary aspergillosis: a randomized controlled trial. J Allergy Clin Immunol. 2003;111:952–7.

Slieker MG, Schilder AG, Uiterwaal CS, Van der Ent CK. Children with cystic fibrosis: who should visit the otorhinolaryngologist? Arch Otolaryngol Head Neck Surg. 2002;128:1245–8.

PubMed   Google Scholar  

Brihaye P, Jorissen M, Clement PA. Chronic rhinosinusitis in cystic fibrosis (mucoviscidosis). Acta Otorhinolaryngol Belg. 1997;51:323–37.

Hadfield PJ, Rowe-Jones JM, Mackay IS. The prevalence of nasal polyps in adults with cystic fibrosis. Clin Otolaryngol Allied Sci. 2000;25:19–22.

Coste A, Gilain L, Roger G, et al. Endoscopic and CT-scan evaluation of rhinosinusitis in cystic fibrosis. Rhinology. 1995;33:152–6.

GentileVG IG. Paranasal sinus disease in patients with cystic fibrosis. Otolaryngol Clin N Am. 1996;29:193–205.

Brihaye P, Clement PA, Dab I, Desprechin B. Pathological changes of the lateral nasal wall in patients with cystic fibrosis (mucoviscidosis). Int J Pediatr Otorhinolaryngol. 1994;28(2–3):141–7.

Henriksson G, Westrin KM, Karpati F, et al. Nasal polyps in cystic fibrosis: clinical endoscopic study with nasal lavage fluid analysis. Chest. 2002;121:40–7.

Cimmino M, Cavaliere M, Nardone M, et al. Clinical characteristics and genotype analysis of patients with cystic fibrosis and nasal polyposis. Clin Ololaryngol Allied Sci. 2003;28:125–32.

Hadfield PJ, Rowe-Jones JM, Mackay IS. A prospective treatment trial of nasal polyps in adults with cystic fibrosis. Rhinology. 2000;38(2):63–5.

Rowe-Jones JM, Mackay IS. Endoscopic sinus surgery in the treatment of cystic fibrosis with nasal polyposis. Laryngoscope. 1996;106(12 Pt 1):1540–4.

Davidson TM, Murphy C, Mitchell M, et al. Management of chronic sinusitis in cystic fibrosis. Laryngoscope. 1995;105(4 Pt 1):354–8.

Rubinstein S, Moss R, Lewiston N. Constipation and meconium ileus equivalent in patients with cystic fibrosis. Pediatrics. 1986;78:473–9.

O’Halloran SM, Gilbert J, Mckendrick OM, et al. Gastrografin in acute meconium ileus equivalent. Arch Dis Child. 1986;61:1128–30.

Vic P, Tassin E, Turck D, et al. Frequency of gastro-oesophageal reflux in infants and in young children with cystic fibrosis. Arch Pediatr. 1995;2:742–6 [in French].

Malfoot A, Dab I. New insights on gastro-oesophageal reflux in cystic fibrosis by longitudinal follow up. Arch Dis Child. 1991;66:1339–45.

Brodzicki J, Trawinska-Bartnicka M, Korzon M. Frequency, consequences and pharmacological treatment of gastro-oesophageal reflux in children with cystic fibrosis. Med Sci Monit. 2002;8:CR529–37.

Gustafsson PM, Fransson SG, Kjellman NI, et al. Gastro-oesophageal reflux and severity of pulmonary disease in cystic fibrosis. Scand J Gastroenterol. 1991;26:449–56.

Fitzsimmons SC, Burkhart GA, Borowitz D, et al. High-dose pancreatic-enzyme supplements and fibrosing colonopathy in children with cystic fibrosis. N Engl J Med. 1997;336:1283–9.

Breckenridghe A, Raine J. Concern about records of fibrosing colonopathy study. Lancet. 2001;357:1527.

Baxter PS, Goldhill J, Hardcastle J. Accounting for cystic fibrosis. Nature. 1988;335:211.

Corbett K, Kelleher S, Rowland M, et al. Cystic fibrosis associated liver disease: a population–based study. J Pediatr. 2004;145:327–32.

Lamireau T, Monnereau S, Martin S, et al. Epidemiology of liver disease in cystic fibrosis: a longtitudinal study. J Hepatol. 2004;41:920–5.

McHugo JM, McKeown C, Brown MT, et al. Ultrasound findings in children with cystic fibrosis. Br J Radiol. 1987;60:137–41.

King LJ, Scurr ED, Murugan N, et al. Hepatobiliary and pancreatic manifestations of cystic fibrosis: MR imaging appearances. Radiographics. 2000;20:767–77.

Angelico M, Gandin C, Canuzzi P, et al. Gallstones in cystic fibrosis: a critical appraisal. Hepatology. 1991;14:768–75.

Yang Y, Raper SE, Cohn JA, et al. An approach for treating the hepatobiliary disease of cystic fibrosis by somatic gene transfer. Proc Natl Acad Sci USA. 1993;90:4601–5.

De Boeck K, Wilschanski M, Castellani C, et al. Cystic fibrosis: terminology and diagnostic algorithms. Thorax. 2006;61:627–35.

Durno C, Corey M, Zielenski J, et al. Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. Gastroenterology. 2002;123:1857–64.

Bourke S, Rooney M, Fitzgerald M, et al. Episodic ­arthropathy in adult cystic fibrosis. Quart J Med. 1987;64:651–9.

Rush PJ, Shore A, Coblentz C, et al. The musculoskeletal manifestations of cystic fibrosis. Semin Arthritis Rheum. 1986;15:213–25.

Braude S, Kennedy H, Hodson M, et al. Hypertrophic osteoarthropathy in cystic fibrosis. Br Med J. 1984;288:822–3.

Tizzano EF, Silver MM, Chitayat D, et al. Differential cellular expression of cystic fibrosis transmembrane regulator in human reproductive tissues: clues for the infertility in patients with cystic fibrosis. Am J Pathol. 1994;144:906–14.

Phillipson G. Cystic fibrosis and reproduction. Reprod Fertil Dev. 1998;10:113–9.

Download references

Author information

Authors and affiliations.

Department of Respiratory Medicine, Children’s University Hospital, Temple Street, Dublin 1, Ireland

Dubhfeasa Maire Slattery MD, PhD

Radiology Department, Children’s University Hospital, Temple Street, Dublin, Ireland

Veronica Donoghue FRCR, FFR, RCSI

You can also search for this author in PubMed   Google Scholar

Corresponding author

Correspondence to Dubhfeasa Maire Slattery MD, PhD .

Editor information

Editors and affiliations.

Children's Hospital Boston, Dept. Radiology, Harvard Medical School, Longwood Ave. 300, Boston, 02115, Massachusetts, USA

Robert H. Cleveland

Rights and permissions

Reprints and permissions

Copyright information

© 2012 Springer Science+Business Media, LLC

About this chapter

Slattery, D.M., Donoghue, V. (2012). Cystic Fibrosis. In: Cleveland, R. (eds) Imaging in Pediatric Pulmonology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-5872-3_15

Download citation

DOI : https://doi.org/10.1007/978-1-4419-5872-3_15

Published : 24 November 2011

Publisher Name : Springer, Boston, MA

Print ISBN : 978-1-4419-5871-6

Online ISBN : 978-1-4419-5872-3

eBook Packages : Medicine Medicine (R0)

Share this chapter

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

• Publish with us

Policies and ethics

• Find a journal
• Track your research

Overview - Cystic fibrosis

Cystic fibrosis is an inherited condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food.

In the UK, most cases of cystic fibrosis are picked up at birth using the newborn screening heel prick test.

Symptoms usually start in early childhood and vary from child to child, but the condition gets slowly worse over time, with the lungs and digestive system becoming increasingly damaged.

Treatments are available to help reduce the problems caused by the condition and make it easier to live with, but sadly life expectancy is shortened.

Symptoms of cystic fibrosis

The build-up of sticky mucus in the lungs can cause breathing problems and increases the risk of lung infections. Over time, the lungs may stop working properly.

Mucus also clogs the pancreas (the organ that helps with digestion), which stops enzymes reaching food in the gut and helping with digestion.

This means most people with cystic fibrosis don't absorb nutrients from food properly and need to eat more calories to avoid malnutrition .

Symptoms of cystic fibrosis include:

• recurring  chest infections
• wheezing, coughing , shortness of breath and damage to the airways (bronchiectasis)
• difficulty putting on weight and growing
• yellowing of the skin and the whites of the eyes ( jaundice )
• diarrhoea , constipation , or large, smelly poo
• a bowel obstruction in newborn babies (meconium ileus) – surgery may be needed

People with the condition can also develop a number of related conditions, including diabetes , thin, weakened bones (osteoporosis) , infertility in males, and liver problems.

Diagnosing cystic fibrosis

In the UK, all newborn babies are screened for cystic fibrosis as part of the newborn blood spot test (heel prick test) carried out shortly after they're born.

If the screening test suggests a child may have cystic fibrosis, they'll need these additional tests to confirm they have the condition:

• a sweat test – to measure the amount of salt in sweat, which will be abnormally high in someone with cystic fibrosis
• a genetic test – where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis

These tests can also be used to diagnose cystic fibrosis in older children and adults who didn't have the newborn test.

The genetic test can also be used to see whether someone is a "carrier" of cystic fibrosis in cases where the condition runs in the family.

This test can be important for someone who thinks they may have the faulty gene and wishes to have children.

The Cystic Fibrosis Trust has more information about genetic testing for cystic fibrosis.

Treatments for cystic fibrosis

There's no cure for cystic fibrosis, but a range of treatments can help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

People with cystic fibrosis may need to take different medicines to treat and prevent lung problems.

Physical activity and the use of airway clearance techniques may also be recommended to help clear mucus from the lungs.

Find out more about treatments for cystic fibrosis .

Complications of cystic fibrosis

People with cystic fibrosis also have a higher risk of developing other conditions.

These include:

• weak and brittle bones (osteoporosis) – medicines called bisphosphonates can sometimes help
• diabetes – insulin and a special diet may be needed to control blood sugar levels
• nasal polyps and sinus infections – steroids, antihistamines, antibiotics or sinus flushes can help
• liver problems
• fertility problems – it's possible for women with cystic fibrosis to have children, but men won't be able to father a child without help from fertility specialists (see a doctor or fertility specialist for more advice)

People with cystic fibrosis should not meet face to face. This is because they're more likely to spread infections, and more vulnerable to complications if they do develop an infection.

The Cystic Fibrosis Trust has more information about complications of cystic fibrosis and preventing cross-infection .

Cause of cystic fibrosis

Cystic fibrosis is a genetic condition. It's caused by a faulty gene that affects the movement of salt and water in and out of cells.

This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways – particularly the lungs and digestive system.

A person with cystic fibrosis is born with the condition. It's not possible to "catch" cystic fibrosis from someone else who has it.

How cystic fibrosis is inherited

To be born with cystic fibrosis, a child has to inherit a copy of the faulty gene from both of their parents.

This can happen if the parents are "carriers" of the faulty gene, which means they don't have cystic fibrosis themselves.

It's estimated around 1 in every 25 people in the UK are carriers of cystic fibrosis.

If both parents are carriers, there's a:

• 1 in 4 chance their child won't inherit any faulty genes and won't have cystic fibrosis or be able to pass it on
• 1 in 2 chance their child will inherit a faulty gene from one parent and be a carrier
• 1 in 4 chance their child will inherit the faulty gene from both parents and have cystic fibrosis

If one parent has cystic fibrosis and the other is a carrier, there's a:

• 1 in 2 chance their child will be a carrier
• 1 in 2 chance their child will have cystic fibrosis

Cystic fibrosis tends to get worse over time and can be fatal if it leads to a serious infection or the lungs stop working properly.

But people with cystic fibrosis are now living for longer because of advancements in treatment.

Currently, about half of people with cystic fibrosis will live past the age of 40. Children born with the condition nowadays are likely to live longer than this.

Support is available to help people with cystic fibrosis live as independently as they can and have the best possible quality of life.

It can be helpful to speak to others who have the same condition, and to connect with a charity.

The following links may be useful:

• Asthma + Lung UK – the UK's lung health charity
• Cystic Fibrosis Trust – which has an online forum and news about ongoing research into cystic fibrosis
• CF Kids – a support group for parents of children with cystic fibrosis
• Cystic Fibrosis Care – a charity that provides practical help and support

Information about you

If you or your child has cystic fibrosis, your clinical team will ask you if you consent to being on the UK Cystic Fibrosis Registry.

This is a secure anonymous registry sponsored by the Cystic Fibrosis Trust that records health information on people with cystic fibrosis.

The registry helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.

Find out more about the UK Cystic Fibrosis Registry

Page last reviewed: 16 March 2021 Next review due: 16 March 2024

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

• View all journals
• Explore content
• About the journal
• Publish with us
• Sign up for alerts
• Published: 14 May 2015
• Cystic fibrosis
• Felix Ratjen 1 ,
• Scott C. Bell 2 ,
• Steven M. Rowe 3 ,
• Christopher H. Goss 4 ,
• Alexandra L. Quittner 5 &
• Andrew Bush 6  

Nature Reviews Disease Primers volume  1 , Article number:  15010 ( 2015 ) Cite this article

14k Accesses

353 Citations

61 Altmetric

Metrics details

• Genetic testing
• Metabolic disorders
• Respiratory tract diseases

Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. The gene defect was first described 25 years ago and much progress has been made since then in our understanding of how CFTR mutations cause disease and how this can be addressed therapeutically. CFTR is a transmembrane protein that transports ions across the surface of epithelial cells. CFTR dysfunction affects many organs; however, lung disease is responsible for the vast majority of morbidity and mortality in patients with cystic fibrosis. Prenatal diagnostics, newborn screening and new treatment algorithms are changing the incidence and the prevalence of the disease. Until recently, the standard of care in cystic fibrosis treatment focused on preventing and treating complications of the disease; now, novel treatment strategies directly targeting the ion channel abnormality are becoming available and it will be important to evaluate how these treatments affect disease progression and the quality of life of patients. In this Primer, we summarize the current knowledge, and provide an outlook on how cystic fibrosis clinical care and research will be affected by new knowledge and therapeutic options in the near future. For an illustrated summary of this Primer, visit: http://go.nature.com/4VrefN

This is a preview of subscription content, access via your institution

Access options

Subscribe to this journal

Receive 1 digital issues and online access to articles

92,52 € per year

only 92,52 € per issue

Buy this article

• Purchase on Springer Link
• Instant access to full article PDF

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

Future therapies for cystic fibrosis

Beyond cystic fibrosis transmembrane conductance regulator therapy: a perspective on gene therapy and small molecule treatment for cystic fibrosis

A Systematic Review of the Clinical Efficacy and Safety of CFTR Modulators in Cystic Fibrosis

Weiler, C. A. & Drumm, M. L. Genetic influences on cystic fibrosis lung disease severity. Front. Pharmacol. 4 , 40 (2013).

Article   PubMed   PubMed Central   Google Scholar  

Jarvi, K. et al . Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia. Lancet 345 , 1578 (1995).

Article   CAS   PubMed   Google Scholar  

Gonska, T. et al . Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. Chest 142 , 996–1004 (2012).

Wilschanski, M. et al . Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am. J. Respir. Crit. Care Med. 174 , 787–794 (2006).

Article   CAS   PubMed   PubMed Central   Google Scholar  

Riordan, J. R. et al . Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245 , 1066–1073 (1989).

Rommens, J. M. et al . Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245 , 1059–1065 (1989).

Ratjen, F. & Grasemann, H. New therapies in cystic fibrosis. Curr. Pharm. Des. 18 , 614–627 (2012).

O'Sullivan, B. P. & Freedman, S. D. Cystic fibrosis. Lancet 373 , 1891–1904 (2009).

Article   PubMed   Google Scholar  

Walters, S., M. A . in Hodson and Geddes' Cystic Fibrosis 3rd edn (eds Hodson, M. E., Geddes D. M., Bush, A. ) 21–45 (Edward Arnold Ltd, 2007).

Google Scholar  

Farrell, P. M. The prevalence of cystic fibrosis in the European Union. J. Cyst. Fibros. 7 , 450–453 (2008).

Festini, F. et al . Incidence of cystic fibrosis in the Albanian population. Pediatr. Pulmonol. 43 , 1124–1129 (2008).

Festini, F., Taccetti, G., Cioni, M. L., Repetto, T. & De Martino, M. High incidence of cystic fibrosis in children born in Italy to Albanian immigrants. Thorax 58 , 93 (2003).

Dupuis, A., Hamilton, D., Cole, D. E. & Corey, M. Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing. J. Pediatr. 147 , 312–315 (2005).

Kulich, M., Rosenfeld, M., Goss, C. H. & Wilmott, R. Improved survival among young patients with cystic fibrosis. J. Pediatr. 142 , 631–636 (2003).

MacKenzie, T. et al . Longevity of patients with cystic fibrosis in 2000 to 2010 and beyond: survival analysis of the cystic fibrosis foundation patient registry. Ann. Intern. Med. 161 , 233–241 (2014).

Cystic Fibrosis Foundation Cystic Fibrosis Foundation Patient Registry 2012 annual data report. (Cystic Fibrosis Foundation, 2013).

Dodge, J. A., Lewis, P. A., Stanton, M. & Wilsher, J. Cystic fibrosis mortality and survival in the UK: 1947–2003. Eur. Respir. J. 29 , 522–526 (2007). References 15 and 17 show the improvements in survival in the US and the UK cystic fibrosis populations, respectively, over the past decade.

Cystic Fibrosis Canada. Canadian cystic fibrosis patient data registry report 2010. (Cystic Fibrosis Canada, 2010).

Kerem, E. et al . Factors associated with FEV1 decline in cystic fibrosis: analysis of the ECFS patient registry. Eur. Respir. J. 43 , 125–133 (2014).

Rodman, D. M. et al . Late diagnosis defines a unique population of long-term survivors of cystic fibrosis. Am. J. Respir. Crit. Care Med. 171 , 621–626 (2005).

Nick, J. A. et al . Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis. Am. J. Respir. Crit. Care Med. 182 , 614–626 (2010).

Simmonds, N. J. et al . Cystic fibrosis and survival to 40 years: a study of cystic fibrosis transmembrane conductance regulator function. Eur. Respir. J. 37 , 1076–1082 (2011).

George, P. M. et al . Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007. BMJ 342 , d1008 (2011).

Accurso, F. J. et al . Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N. Engl. J. Med. 363 , 1991–2003 (2010).

Ramsey, B. W. et al . A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N. Engl. J. Med. 365 , 1663–1672 (2011). This article shows the efficacy of CFTR modulation by the potentiator ivacaftor in patients with the G551D mutation.

Kerem, B. et al . Identification of the cystic fibrosis gene: genetic analysis. Science 245 , 1073–1080 (1989).

Higgins, C. F. ABC transporters: from microorganisms to man. Annu. Rev. Cell Biol. 8 , 67–113 (1992).

Klein, I., Sarkadi, B. & Varadi, A. An inventory of the human ABC proteins. Biochim. Biophys. Acta 1461 , 237–262 (1999).

Collins, F. S. Cystic fibrosis: molecular biology and therapeutic implications. Science 256 , 774–779 (1992).

Serohijos, A. W. et al . Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function. Proc. Natl Acad. Sci. USA 105 , 3256–3261 (2008).

Drumm, M. L. et al . Genetic modifiers of lung disease in cystic fibrosis. N. Engl. J. Med. 353 , 1443–1453 (2005).

Chillon, M. et al . Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. 332 , 1475–1480 (1995).

Sharer, N. et al . Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N. Engl. J. Med. 339 , 645–652 (1998).

Cohn, J. A. et al . Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N. Engl. J. Med. 339 , 653–658 (1998).

Sosnay, P. R. et al . Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat. Genet. 45 , 1160–1167 (2013).

Welsh, M. J. & Smith, A. E. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 73 , 1251–1254 (1993).

Okiyoneda, T. et al . Peripheral protein quality control removes unfolded CFTR from the plasma membrane. Science 329 , 805–810 (2010).

Mendoza, J. L. et al . Requirements for efficient correction of DeltaF508 CFTR revealed by analyses of evolved sequences. Cell 148 , 164–174 (2012).

Rabeh, W. M. et al . Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function. Cell 148 , 150–163 (2012). References 38 and 39 delineate the importance of two distinct molecular defects conferred by the F508del. CFTR mutation, including their effect of correcting CFTR misfolding to restore CFTR expression. These papers show that to fully restore mutated CFTR to the cell surface, both NBD1 stability and interdomain assembly must be addressed.

Green, D. M. et al . Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis. J. Pediatr. 161 , 290–295 e1 (2012).

Garred, P. et al . Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J. Clin. Invest. 104 , 431–437 (1999).

Sun, L. et al . Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nat. Genet. 44 , 562–569 (2012).

Blackman, S. M. et al . Genetic modifiers of cystic fibrosis-related diabetes. Diabetes 62 , 3627–3635 (2013).

Dorfman, R. et al . Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results. Hum. Genet. 126 , 763–778 (2009).

Romi, H. et al . Meconium ileus caused by mutations in GUCY2C , encoding the CFTR-activating guanylate cyclase 2C. Am. J. Hum. Genet. 90 , 893–899 (2012).

Li, W. et al . Unraveling the complex genetic model for cystic fibrosis: pleiotropic effects of modifier genes on early cystic fibrosis-related morbidities. Hum. Genet. 133 , 151–161 (2014).

Wright, F. A. et al . Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. Nat. Genet. 43 , 539–546 (2011).

Collaco, J. M., Blackman, S. M., McGready, J., Naughton, K. M. & Cutting, G. R. Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function. J. Pediatr. 157 , 802–807 e1–3 (2010).

Vanscoy, L. L. et al . Heritability of lung disease severity in cystic fibrosis. Am. J. Respir. Crit. Care Med. 175 , 1036–1043 (2007).

Kolbe, E. W. et al . CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine. Eur. J. Hum. Genet. 21 , 691–694 (2013).

Bremer, L. A. et al . Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum. Mol. Genet. 17 , 2228–2237 (2008).

Yarden, J. et al . Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype. Thorax 60 , 320–325 (2005).

Goss, C. H., Newsom, S. A., Schildcrout, J. S., Sheppard, L. & Kaufman, J. D. Effect of ambient air pollution on pulmonary exacerbations and lung function in cystic fibrosis. Am. J. Respir. Crit. Care Med. 169 , 816–821 (2004).

Collaco, J. M. et al . Interactions between secondhand smoke and genes that affect cystic fibrosis lung disease. JAMA 299 , 417–424 (2008).

Martin, B. et al . Comparison of the US and Australian cystic fibrosis registries: the impact of newborn screening. Pediatrics 129 , e348–e355 (2012).

Boyle, M. P., Sabadosa, K. A., Quinton, H. B., Marshall, B. C. & Schechter, M. S. Key findings of the US Cystic Fibrosis Foundation's clinical practice benchmarking project. BMJ Qual. Saf. 23 (Suppl. 1), i15–i22 (2014). This article reports the key outcomes of the quality improvement programme of cystic fibrosis care in the United States and shows the assessment of patterns of practice in the top-performing (20%) treatment centres, and provides insight into the features of practice that could lead to optimization of patient outcomes.

Ooi, C. Y. & Durie, P. R. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. J. Cyst. Fibros. 11 , 355–362 (2012).

Ratjen, F. & Doring, G. Cystic fibrosis. Lancet 361 , 681–689 (2003).

Rowe, S. M., Miller, S. & Sorscher, E. J. Cystic fibrosis. N. Engl. J. Med. 352 , 1992–2001 (2005).

Boucher, R. C. Airway surface dehydration in cystic fibrosis: pathogenesis and therapy. Annu. Rev. Med. 58 , 157–170 (2007).

Adebamiro, A., Cheng, Y., Rao, U. S., Danahay, H. & Bridges, R. J. A segment of γ-ENaC mediates elastase activation of Na + transport. J. Gen. Physiol. 130 , 611–629 (2007).

Caldwell, R. A., Boucher, R. C. & Stutts, M. J. Neutrophil elastase activates near-silent epithelial Na + channels and increases airway epithelial Na + transport. Am. J. Physiol. Lung Cell. Mol. Physiol. 288 , L813–819 (2005).

Passero, C. J. et al . TMPRSS4-dependent activation of the epithelial sodium channel requires cleavage of the γ-subunit distal to the furin cleavage site. Am. J. Physiol. Renal Physiol. 302 , F1–8 (2012).

Matsui, H. et al . Evidence for periciliary liquid layer depletion, not abnormal ion composition, in the pathogenesis of cystic fibrosis airways disease. Cell 95 , 1005–1015 (1998).

Button, B. et al . A periciliary brush promotes the lung health by separating the mucus layer from airway epithelia. Science 337 , 937–941 (2012).

Chen, J. H. et al . Loss of anion transport without increased sodium absorption characterizes newborn porcine cystic fibrosis airway epithelia. Cell 143 , 911–923 (2010).

Tuggle, K. L. et al . Characterization of defects in ion transport and tissue development in cystic fibrosis transmembrane conductance regulator (CFTR)-knockout rats. PLoS ONE 9 , e91253 (2014).

Itani, O. A. et al . Human cystic fibrosis airway epithelia have reduced Cl − conductance but not increased Na + conductance. Proc. Natl Acad. Sci. USA 108 , 10260–10265 (2011).

Birket, S. E. et al . A functional anatomic defect of the cystic fibrosis airway. Am. J. Respir. Crit. Care Med. 190 , 421–432 (2014).

Hoegger, M. J. et al . Cystic fibrosis. Impaired mucus detachment disrupts mucociliary transport in a piglet model of cystic fibrosis. Science 345 , 818–822 (2014).

Corcoran, T. E. et al . Absorptive clearance of DTPA as an aerosol-based biomarker in the cystic fibrosis airway. Eur. Respir. J. 35 , 781–786 (2010).

Schutte, A. et al . Microbial-induced meprin beta cleavage in MUC2 mucin and a functional CFTR channel are required to release anchored small intestinal mucus. Proc. Natl Acad. Sci. USA 111 , 12396–12401 (2014).

Henderson, A. G. et al . Cystic fibrosis airway secretions exhibit mucin hyperconcentration and increased osmotic pressure. J. Clin. Invest. 124 , 3047–3060 (2014).

Quinton, P. M. Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis. Lancet 372 , 415–417 (2008).

Garcia, M. A., Yang, N. & Quinton, P. M. Normal mouse intestinal mucus release requires cystic fibrosis transmembrane regulator-dependent bicarbonate secretion. J. Clin. Invest. 119 , 2613–2622 (2009).

Gustafsson, J. K. et al . Bicarbonate and functional CFTR channel are required for proper mucin secretion and link cystic fibrosis with its mucus phenotype. J. Exp. Med. 209 , 1263–1272 (2012). References 70, 71 and 76 demonstrate that a defect in mucociliary clearance emanates from abnormalities of mucus in cystic fibrosis, including its adhesive properties, shown in mouse models in which the intestines are bicarbonate-dependent, porcine airway gland ducts submerged in saline and the human airway surface, even in the setting of adequate periciliary layer depth.

Keiser, N. W. et al . Defective innate immunity and hyper-inflammation in newborn CFTR-knockout ferret lungs. Am. J. Respir. Cell. Mol. Biol. 15 Oct 2014 [epub ahead of print].

Rogers, C. S. et al . Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs. Science 321 , 1837–1841 (2008).

Kunzelmann, K. & Mehta, A. CFTR: a hub for kinases and crosstalk of cAMP and Ca 2+ . FEBS J. 280 , 4417–4429 (2013).

Garnett, J. P. et al . Novel role for pendrin in orchestrating bicarbonate secretion in cystic fibrosis transmembrane conductance regulator (CFTR)-expressing airway serous cells. J. Biol. Chem. 286 , 41069–41082 (2011).

Pezzulo, A. A. et al . Reduced airway surface pH impairs bacterial killing in the porcine cystic fibrosis lung. Nature 487 , 109–113 (2012).

Pohl, K. et al . A neutrophil intrinsic impairment affecting Rab27a and degranulation in cystic fibrosis is corrected by CFTR potentiator therapy. Blood 124 , 999–1009 (2014).

Bruscia, E. M. et al . Macrophages directly contribute to the exaggerated inflammatory response in cystic fibrosis transmembrane conductance regulator −/− mice. Am. J. Respir. Cell. Mol. Biol. 40 , 295–304 (2009).

Wang, X. et al . Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. Cell 127 , 803–815 (2006).

Bedrossian, C., Greenberg, S., Singer, D., Hansen, J. & Rosenberg, H. The lung in cystic fibrosis: a quantitative study including prevalence of pathologic findings among different age groups. Hum. Pathol. 7 , 195–204 (1976).

Livraghi-Butrico, A. et al . Mucus clearance, MyD88-dependent and MyD88-independent immunity modulate lung susceptibility to spontaneous bacterial infection and inflammation. Mucosal Immunol. 5 , 397–408 (2012).

Hybiske, K. et al . Effects of cystic fibrosis transmembrane conductance regulator and Delta F508CFTR on inflammatory response, ER stress, and Ca 2+ of airway epithelia. Am. J. Physiol. Lung Cell. Mol. Physiol. 293 , L1250–L1260 (2007).

Mott, L. S. et al . Progression of early structural lung disease in young children with cystic fibrosis assessed using CT. Thorax 67 , 509–516 (2011).

Sly, P. D. et al . Risk factors for bronchiectasis in children with cystic fibrosis. N. Engl. J. Med. 368 , 1963–1970 (2013). This article highlights that neutrophil elastase activity in bronchoalveolar lavage fluid in early life of children with cystic fibrosis undergoing bronchoscopy is associated with early bronchiectasis. This finding shows the importance of early detection of lung infection and inflammation, and the importance of its treatment.

Gehrig, S. et al . Lack of neutrophil elastase reduces inflammation, mucus hypersecretion, and emphysema, but not mucus obstruction, in mice with cystic fibrosis-like lung disease. Am. J. Respir. Crit. Care Med. 189 , 1082–1092 (2014).

Vandivier, R. W. et al . Elastase-mediated phosphatidylserine receptor cleavage impairs apoptotic cell clearance in cystic fibrosis and bronchiectasis. J. Clin. Invest. 109 , 661–670 (2002).

Berger, M., Sorensen, R. U., Tosi, M. F., Dearborn, D. G. & Doring, G. Complement receptor expression on neutrophils at an inflammatory site, the Pseudomonas -infected lung in cystic fibrosis. J. Clin. Invest. 84 , 1302–1313 (1989).

Day, B. J., van Heeckeren, A. M., Min, E. & Velsor, L. W. Role for cystic fibrosis transmembrane conductance regulator protein in a glutathione response to bronchopulmonary pseudomonas infection. Infect. Immun. 72 , 2045–2051 (2004).

Roum, J. H., Buhl, R., McElvaney, N. G., Borok, Z. & Crystal, R. G. Systemic deficiency of glutathione in cystic fibrosis. J. Appl. Physiol. 75 , 2419–2424 (1993).

Knowles, M. R. & Boucher, R. C. Mucus clearance as a primary innate defense mechanism for mammalian airways. J. Clin. Invest. 109 , 571–577 (2002).

Emerson, J., Rosenfeld, M., McNamara, S., Ramsey, B. & Gibson, R. L. Pseudomonas aeruginosa and other predictors of mortality and morbidity in young children with cystic fibrosis. Pediatr. Pulmonol. 34 , 91–100 (2002).

Nixon, G. M. et al . Clinical outcome after early Pseudomonas aeruginosa infection in cystic fibrosis. J. Pediatr. 138 , 699–704 (2001).

Gangell, C. et al . Inflammatory responses to individual microorganisms in the lungs of children with cystic fibrosis. Clin. Infect. Dis. 53 , 425–432 (2011).

van Ewijk, B. E. et al . Prevalence and impact of respiratory viral infections in young children with cystic fibrosis: prospective cohort study. Pediatrics 122 , 1171–1176 (2008).

Wat, D. et al . The role of respiratory viruses in cystic fibrosis. J. Cyst. Fibros. 7 , 320–328 (2008).

Wark, P. A. et al . Viral infections trigger exacerbations of cystic fibrosis in adults and children. Eur. Respir. J. 40 , 510–512 (2012).

Amin, R., Dupuis, A., Aaron, S. D. & Ratjen, F. The effect of chronic infection with Aspergillus fumigatus on lung function and hospitalization in patients with cystic fibrosis. Chest 137 , 171–176 (2010).

Dasenbrook, E. C. et al . Association between respiratory tract methicillin-resistant Staphylococcus aureus and survival in cystic fibrosis. JAMA 303 , 2386–2392 (2010).

Govan, J. R., Brown, A. R. & Jones, A. M. Evolving epidemiology of Pseudomonas aeruginosa and the Burkholderia cepacia complex in cystic fibrosis lung infection. Future Microbiol. 2 , 153–164 (2007).

Ledson, M. J., Gallagher, M. J., Jackson, M., Hart, C. A. & Walshaw, M. J. Outcome of Burkholderia cepacia colonisation in an adult cystic fibrosis centre. Thorax 57 , 142–145 (2002).

Aaron, S. D. et al . Infection with transmissible strains of Pseudomonas aeruginosa and clinical outcomes in adults with cystic fibrosis. JAMA 304 , 2145–2153 (2010).

Armstrong, D. S. et al . Detection of a widespread clone of Pseudomonas aeruginosa in a pediatric cystic fibrosis clinic. Am. J. Respir. Crit. Care Med. 166 , 983–987 (2002).

McCallum, S. J. et al . Superinfection with a transmissible strain of Pseudomonas aeruginosa in adults with cystic fibrosis chronically colonised by P. aeruginosa . Lancet 358 , 558–560 (2001).

Cramer, N. et al . Molecular epidemiology of chronic Pseudomonas aeruginosa airway infections in cystic fibrosis. PLoS ONE 7 , e50731 (2012).

Kidd, T. J. et al . Pseudomonas aeruginosa exhibits frequent recombination, but only a limited association between genotype and ecological setting. PLoS ONE 7 , e44199 (2012).

Wiehlmann, L. et al . Effective prevention of Pseudomonas aeruginosa cross-infection at a cystic fibrosis centre — results of a 10-year prospective study. Int. J. Med. Microbiol. 302 , 69–77 (2012).

Griffiths, A. L. et al . Effects of segregation on an epidemic Pseudomonas aeruginosa strain in a cystic fibrosis clinic. Am. J. Respir. Crit. Care Med. 171 , 1020–1025 (2005).

Adjemian, J., Olivier, K. N. & Prevots, D. R. Nontuberculous mycobacteria among patients with cystic fibrosis in the United States: screening practices and environmental risk. Am. J. Respir. Crit. Care Med. 190 , 581–586 (2014).

Qvist, T. et al . Epidemiology of nontuberculous mycobacteria among patients with cystic fibrosis in Scandinavia. J. Cyst. Fibros. 14 , 46–52 (2014).

Bryant, J. M. et al . Whole-genome sequencing to identify transmission of Mycobacterium abscessus between patients with cystic fibrosis: a retrospective cohort study. Lancet 381 , 1551–1560 (2013).

Rogers, G. B. et al . Bacterial diversity in cases of lung infection in cystic fibrosis patients: 16S ribosomal DNA (rDNA) length heterogeneity PCR and 16S rDNA terminal restriction fragment length polymorphism profiling. J. Clin. Microbiol. 41 , 3548–3558 (2003).

Tunney, M. M. et al . Detection of anaerobic bacteria in high numbers in sputum from patients with cystic fibrosis. Am. J. Respir. Crit. Care Med. 177 , 995–1001 (2008).

LiPuma, J. J. Expanding our understanding of respiratory microbiota in cystic fibrosis. Ann. Am. Thorac. Soc. 11 , 1084–1085 (2014).

Worlitzsch, D. et al . Effects of reduced mucus oxygen concentration in airway Pseudomonas infections of cystic fibrosis patients. J. Clin. Invest. 109 , 317–325 (2002).

Bragonzi, A. et al . Pseudomonas aeruginosa microevolution during cystic fibrosis lung infection establishes clones with adapted virulence. Am. J. Respir. Crit. Care Med. 180 , 138–145 (2009).

Marvig, R. L., Sommer, L. M., Molin, S. & Johansen, H. K. Convergent evolution and adaptation of Pseudomonas aeruginosa within patients with cystic fibrosis. Nat. Genet. 47 , 57–64 (2015).

Young, R. L. et al . Neutrophil extracellular trap (NET)-mediated killing of Pseudomonas aeruginosa : evidence of acquired resistance within the CF airway, independent of CFTR. PLoS ONE 6 , e23637 (2011).

Regamey, N. et al . Distinct patterns of inflammation in the airway lumen and bronchial mucosa of children with cystic fibrosis. Thorax 67 , 164–170 (2012).

Tan, H. L. et al . The Th17 pathway in cystic fibrosis lung disease. Am. J. Respir. Crit. Care Med. 184 , 252–258 (2011).

Hector, A. et al . Regulatory T cell impairment in cystic fibrosis patients with chronic Pseudomonas infection. Am. J. Respir. Crit. Care Med. 191 , 914–923 (2015).

Ooi, C. Y. et al . Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis? Thorax 69 , 254–260 (2014). This manuscript looks at the use of ancillary testing in the diagnosis of cystic fibrosis. Despite increasing sophistication of ion transport measurements and genetic testing, the diagnosis frequently remains in doubt, underscoring the importance of clinical acumen in these indeterminate cases.

Ooi, C. Y. et al . Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? Thorax 67 , 618–624 (2012). The article discusses the nomenclature of and the approach to infants with an equivocal newborn screening test. This is a very difficult area of uncertainty for paediatricians and families, and this consensus statement, whether the nomenclature is thought to be correct or not, offers important guidance.

Stewart, B., Zabner, J., Shuber, A. P., Welsh, M. J. & McCray, P. B. Jr. Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am. J. Respir. Crit. Care Med. 151 , 899–903 (1995).

Knowles, M., Gatzy, J. & Boucher, R. Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis. N. Engl. J. Med. 305 , 1489–1495 (1981).

Ooi, C. Y. et al . Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis? Ann. Am. Thorac Soc. 11 , 562–570 (2014).

Vermeulen, F., Proesmans, M., Boon, M. & De Boeck, K. Improved repeatability of nasal potential difference with a larger surface catheter. J. Cyst. Fibros. [online] , (2014).

Veeze, H. J., Sinaasappel, M., Bijman, J., Bouquet, J. & de Jonge, H. R. Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis. Gastroenterology 101 , 398–403 (1991).

Cohen-Cymberknoh, M. et al . Evaluation of the intestinal current measurement method as a diagnostic test for cystic fibrosis. Pediatr. Pulmonol. 48 , 229–235 (2013).

Dekkers, J. F. et al . A functional CFTR assay using primary cystic fibrosis intestinal organoids. Nat. Med. 19 , 939–945 (2013).

Quinton, P. et al . β-adrenergic sweat secretion as a diagnostic test for cystic fibrosis. Am. J. Respir. Crit. Care Med. 186 , 732–739 (2012).

Lebecque, P. et al . Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am. J. Respir. Crit. Care Med. 165 , 757–761 (2002).

Bush, A. & Wallis, C. Time to think again: cystic fibrosis is not an ‘all or none’ disease. Pediatr. Pulmonol. 30 , 139–144 (2000).

Sims, E. J. et al . Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study. Lancet 369 , 1187–1195 (2007).

Farrell, P. M. et al . Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cyst. Fibrosis Neonatal Screen. Study Group. N. Engl. J. Med. 337 , 963–969 (1997). This article is a major report on the only randomized controlled trial of screening. Screening led to improved nutritional outcomes but no respiratory improvements. This finding probably reflects suboptimal care in one clinic, making the important point that if cystic fibrosis newborn screening is instituted, the best standards of care for the screen-positive babies must be available.

Article   CAS   Google Scholar  

Wilcken, B. & Gaskin, K. More evidence to favour newborn screening for cystic fibrosis. Lancet 369 , 1146–1147 (2007).

Balfour-Lynn, I. M. Newborn screening for cystic fibrosis: evidence for benefit. Arch. Dis. Child 93 , 7–10 (2008).

Wagener, J. S., Zemanick, E. T. & Sontag, M. K. Newborn screening for cystic fibrosis. Curr. Opin. Pediatr. 24 , 329–335 (2012).

Ranganathan, S. C. et al . Airway function in infants newly diagnosed with cystic fibrosis. Lancet 358 , 1964–1965 (2001).

Ranganathan, S. C. et al . The evolution of airway function in early childhood following clinical diagnosis of cystic fibrosis. Am. J. Respir. Crit. Care Med. 169 , 928–933 (2004).

Southern, K. W. et al . A survey of newborn screening for cystic fibrosis in Europe. J. Cyst. Fibros. 6 , 57–65 (2007).

Vernooij- van Langen, A. M. et al . Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study. Thorax 67 , 289–295 (2012).

Article   Google Scholar  

Southern, K. W. Determining the optimal newborn screening protocol for cystic fibrosis. Thorax 67 , 281–282 (2012).

Roussey, M. et al . Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations. J. Inherit Metab. Dis. 30 , 613 (2007).

Scotet, V. et al . Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels? Pediatrics 118 , e1523–e1529 (2006).

O'Sullivan, B. P., Zwerdling, R. G., Dorkin, H. L., Comeau, A. M. & Parad, R. Early pulmonary manifestation of cystic fibrosis in children with the ΔF508/R117H-7T genotype. Pediatrics 118 , 1260–1265 (2006).

Peckham, D., Conway, S. P., Morton, A., Jones, A. & Webb, K. Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. J. Cyst. Fibros. 5 , 63–65 (2006).

de Nooijer, R. A. et al . Assessment of CFTR function in homozygous R117H-7T subjects. J. Cyst. Fibros. 10 , 326–332 (2011).

Cystic Fibrosis, F. et al . Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J. Pediatr. 155 , S106–S116 (2009).

Mayell, S. J. et al . A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J. Cyst. Fibros. 8 , 71–78 (2009).

Ren, C. L., Desai, H., Platt, M. & Dixon, M. Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome. Pediatr. Pulmonol. 46 , 1079–1084 (2011).

Wielputz, M. O. et al . Magnetic resonance imaging detects changes in structure and perfusion, and response to therapy in early cystic fibrosis lung disease. Am. J. Respir. Crit. Care Med. 189 , 956–965 (2014).

Aurora, P. et al . Multiple breath inert gas washout as a measure of ventilation distribution in children with cystic fibrosis. Thorax 59 , 1068–1073 (2004).

Aurora, P. et al . Multiple-breath washout as a marker of lung disease in preschool children with cystic fibrosis. Am. J. Respir. Crit. Care Med. 171 , 249–256 (2005).

Kraemer, R., Blum, A., Schibler, A., Ammann, R. A. & Gallati, S. Ventilation inhomogeneities in relation to standard lung function in patients with cystic fibrosis. Am. J. Respir. Crit. Care Med. 171 , 371–378 (2005).

Lum, S. et al . Early detection of cystic fibrosis lung disease: multiple-breath washout versus raised volume tests. Thorax 62 , 341–347 (2007).

Hoo, A. F. et al . Lung function is abnormal in 3-month-old infants with cystic fibrosis diagnosed by newborn screening. Thorax 67 , 874–881 (2012).

Sly, P. D. et al . Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening. Am. J. Respir. Crit. Care Med. 180 , 146–152 (2009).

Pillarisetti, N. et al . Infection, inflammation, and lung function decline in infants with cystic fibrosis. Am. J. Respir. Crit. Care Med. 184 , 75–81 (2011).

Nguyen, T. T. et al . Evolution of lung function during the first year of life in newborn screened cystic fibrosis infants. Thorax 69 , 910–917 (2013).

Brennan, L. C. et al . S7 Evolution of lung function during the first two years of life in infants with cystic fibrosis diagnosed by newborn screening. Thorax 68 , A6–A7 (2013).

Amin, R. et al . The effect of dornase alfa on ventilation inhomogeneity in patients with cystic fibrosis. Eur. Respir. J. 37 , 806–812 (2011).

Amin, R. et al . Hypertonic saline improves the LCI in paediatric CF patients with normal lung function. Thorax 65 , 379–383 (2010).

Vermeulen, F., Proesmans, M., Boon, M., Havermans, T. & De Boeck, K. Lung clearance index predicts pulmonary exacerbations in young patients with cystic fibrosis. Thorax 69 , 39–45 (2014).

Maisonneuve, P., Marshall, B. C., Knapp, E. A. & Lowenfels, A. B. Cancer risk in cystic fibrosis: a 20-year nationwide study from the United States. J. Natl Cancer Inst. 105 , 122–129 (2013).

Thia, L. P. et al . Is chest CT useful in newborn screened infants with cystic fibrosis at 1 year of age? Thorax 69 , 320–327 (2014).

Gustafsson, P. M., De Jong, P. A., Tiddens, H. A. & Lindblad, A. Multiple-breath inert gas washout and spirometry versus structural lung disease in cystic fibrosis. Thorax 63 , 129–134 (2008).

Owens, C. M. et al . Lung Clearance Index and HRCT are complementary markers of lung abnormalities in young children with CF. Thorax 66 , 481–488 (2011).

Stafler, P., Davies, J. C., Balfour-Lynn, I. M., Rosenthal, M. & Bush, A. Bronchoscopy in cystic fibrosis infants diagnosed by newborn screening. Pediatr. Pulmonol. 46 , 696–700 (2011).

Wainwright, C. E. et al . Effect of bronchoalveolar lavage-directed therapy on Pseudomonas aeruginosa infection and structural lung injury in children with cystic fibrosis: a randomized trial. JAMA 306 , 163–171 (2011).

CAS   PubMed   Google Scholar  

King, V. V. Upper respiratory disease, sinusitis, and polyposis. Clin. Rev. Allergy 9 , 143–157 (1991).

Henriksson, G. et al . Nasal polyps in cystic fibrosis: clinical endoscopic study with nasal lavage fluid analysis. Chest 121 , 40–47 (2002).

Hansen, S. K. et al . Evolution and diversification of Pseudomonas aeruginosa in the paranasal sinuses of cystic fibrosis children have implications for chronic lung infection. ISME J. 6 , 31–45 (2012).

Rubinstein, S., Moss, R. & Lewiston, N. Constipation and meconium ileus equivalent in patients with cystic fibrosis. Pediatrics 78 , 473–479 (1986).

Blondeau, K. et al . Gastro-oesophageal reflux and aspiration of gastric contents in adult patients with cystic fibrosis. Gut 57 , 1049–1055 (2008).

Ledder, O., Haller, W., Couper, R. T., Lewindon, P. & Oliver, M. Cystic fibrosis: an update for clinicians. Part 2: hepatobiliary and pancreatic manifestations. J. Gastroenterol. Hepatol. 29 , 1954–1962 (2014).

Borowitz, D. et al . Gastrointestinal outcomes and confounders in cystic fibrosis. J. Pediatr. Gastroenterol. Nutr. 41 , 273–285 (2005).

Lewindon, P. J., Robb, T. A., Moore, D. J., Davidson, G. P. & Martin, A. J. Bowel dysfunction in cystic fibrosis: importance of breath testing. J. Paediatr. Child Health 34 , 79–82 (1998).

Konstan, M. W. et al . Growth and nutritional indexes in early life predict pulmonary function in cystic fibrosis. J. Pediatr. 142 , 624–630 (2003).

Sharma, R. et al . Wasting as an independent predictor of mortality in patients with cystic fibrosis. Thorax 56 , 746–750 (2001).

Corbett, K. et al . Cystic fibrosis-associated liver disease: a population-based study. J. Pediatr. 145 , 327–332 (2004).

Rowland, M. et al . Outcome in cystic fibrosis liver disease. Am. J. Gastroenterol. 106 , 104–109 (2011).

Moran, A. et al . Clinical care guidelines for cystic fibrosis-related diabetes: a position statement of the American Diabetes Association and a clinical practice guideline of the Cystic Fibrosis Foundation, endorsed by the Pediatric Endocrine Society. Diabetes Care 33 , 2697–2708 (2010).

Lewis, C. et al . Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex. Am. J. Respir. Crit. Care Med. 191 , 194–200 (2015).

Neinstein, L. S., Stewart, D., Wang, C. I. & Johnson, I. Menstrual dysfunction in cystic fibrosis. J. Adolesc. Health Care 4 , 153–157 (1983).

Stern, M., Wiedemann, B., Wenzlaff, P. & German Cystic Fibrosis Quality Assessment, G. From registry to quality management: the German Cystic Fibrosis Quality Assessment project 1995–2006. Eur. Respir. J. 31 , 29–35 (2008).

Marshall, B. C. & Nelson, E. C. Accelerating implementation of biomedical research advances: critical elements of a successful 10 year Cystic Fibrosis Foundation healthcare delivery improvement initiative. BMJ Qual. Saf. 23 (Suppl. 1), i95–i103 (2014).

McCormick, J. et al . Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis. Lancet 375 , 1007–1013 (2010).

Colombo, C. & Littlewood, J. The implementation of standards of care in Europe: state of the art. J. Cyst. Fibros. 10 (Suppl. 2), S7–S15 (2011).

Stern, M., Niemann, N., Wiedemann, B., Wenzlaff, P. & German, C. G. Benchmarking improves quality in cystic fibrosis care: a pilot project involving 12 centres. Int. J. Qual. Health Care 23 , 349–356 (2011).

Schechter, M. S. Benchmarking to improve the quality of cystic fibrosis care. Curr. Opin. Pulm. Med. 18 , 596–601 (2012).

Conway, S. et al . European Cystic Fibrosis Society standards of care: framework for the Cystic Fibrosis Centre. J. Cyst. Fibros. 13 , S3–S22 (2014).

European Cystic Fibrosis Society. ECFS Patient Registry annual data report 2010. (European Cystic Fibrosis Society, 2010).

Cystic Fibrosis Trust. UK CF Registry annual report 2011. (Cystic Fibrosis Trust, 2013).

Goss, C. H. et al . Children and young adults with CF in the USA have better lung function compared with the UK. Thorax 70 , 229–236 (2014).

Cystic Fibrosis Australia. 15th Annual Report from the Cystic Fibrosis Data Registry. (Cystic Fibrosis Australia, 2013).

Stern, M. et al . European Cystic Fibrosis Society standards of care: quality management in cystic fibrosis. J. Cyst. Fibros. 13 , S43–S59 (2014).

Quittner, A. L. et al . Pulmonary medication adherence and health-care use in cystic fibrosis. Chest 146 , 142–151 (2014).

Abbott, J., Dodd, M. & Webb, A. K. Health perceptions and treatment adherence in adults with cystic fibrosis. Thorax 51 , 1233–1238 (1996).

Conway, S. P., Pond, M. N., Hamnett, T. & Watson, A. Compliance with treatment in adult patients with cystic fibrosis. Thorax 51 , 29–33 (1996).

Plant, B. J., Goss, C. H., Plant, W. D. & Bell, S. C. Management of comorbidities in older patients with cystic fibrosis. Lancet Respir. Med. 1 , 164–174 (2013).

Grasemann, H. & Ratjen, F. Early lung disease in cystic fibrosis. Lancet Respir. Med. 1 , 148–157 (2013).

Flume, P. A. et al . Cystic fibrosis pulmonary guidelines: treatment of pulmonary exacerbations. Am. J. Respir. Crit. Care Med. 180 , 802–808 (2009).

Smyth, A. R. et al . European Cystic Fibrosis Society Standards of Care: Best Practice guidelines. J. Cyst. Fibros. 13 , S23–S42 (2014).

Okumura, M. J. et al . Improving transition from paediatric to adult cystic fibrosis care: programme implementation and evaluation. BMJ Qual. Saf. 23 (Suppl. 1), i64–i72 (2014).

Lester, M. K. & Flume, P. A. Airway-clearance therapy guidelines and implementation. Respir. Care 54 , 733–753 (2009).

McIlwaine, M. P. et al . Long-term multicentre randomised controlled study of high frequency chest wall oscillation versus positive expiratory pressure mask in cystic fibrosis. Thorax 68 , 746–751 (2013).

Schneiderman, J. E. et al . Longitudinal relationship between physical activity and lung health in patients with cystic fibrosis. Eur. Respir. J. 43 , 817–823 (2014).

Cox, N. S., Alison, J. A. & Holland, A. E. Interventions for promoting physical activity in people with cystic fibrosis. Cochrane Database Syst. Rev. 12 , CD009448 (2013).

Fuchs, H. J. et al . Effect of aerosolized recombinant human DNase on exacerbations of respiratory symptoms and on pulmonary function in patients with cystic fibrosis. N. Engl. J. Med. 331 , 637–642 (1994).

Jones, A. P. & Wallis, C. E. Recombinant human deoxyribonuclease for cystic fibrosis. Cochrane Database Syst. Rev. 3 , CD001127 (2003).

Shah, P. I. et al . Recombinant human DNase I in cystic fibrosis patients with severe pulmonary disease: a short-term, double-blind study followed by six months open-label treatment. Eur. Respir. J. 8 , 954–958 (1995).

Quan, J. M. et al . A two-year randomized, placebo-controlled trial of dornase alfa in young patients with cystic fibrosis with mild lung function abnormalities. J. Pediatr. 139 , 813–820 (2001).

Flume, P. A. et al . Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. Am. J. Respir. Crit. Care Med. 176 , 957–969 (2007). References 197 and 218 describe current standards of care of implementing a cystic fibrosis centre, and for the management of patients with chronic maintenance therapies, respectively.

Elkins, M. R. et al . A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis. N. Engl. J. Med. 354 , 229–240 (2006).

Rosenfeld, M. et al . Inhaled hypertonic saline in infants and children younger than 6 years with cystic fibrosis: the ISIS randomized controlled trial. JAMA 307 , 2269–2277 (2012).

Subbarao, P. et al . Lung clearance index as an outcome measure for clinical trials in young children with cystic fibrosis. A pilot study using inhaled hypertonic saline. Am. J. Respir. Crit. Care Med. 188 , 456–460 (2013).

Bilton, D. et al . Inhaled dry powder mannitol in cystic fibrosis: an efficacy and safety study. Eur. Respir. J. 38 , 1071–1080 (2011).

Aitken, M. L. et al . Long-term inhaled dry powder mannitol in cystic fibrosis: an international randomized study. Am. J. Respir. Crit. Care Med. 185 , 645–652 (2012).

Ramsey, B. W. et al . Efficacy of aerosolized tobramycin in patients with cystic fibrosis. N. Engl. J. Med. 328 , 1740–1746 (1993).

Ramsey, B. W. et al . Intermittent administration of inhaled tobramycin in patients with cystic fibrosis. N. Engl. J. Med. 340 , 23–30 (1999).

Konstan, M. W. et al . Safety, efficacy and convenience of tobramycin inhalation powder in cystic fibrosis patients: The EAGER trial. J. Cyst. Fibros. 10 , 54–61 (2011).

McCoy, K. S. et al . Inhaled aztreonam lysine for chronic airway Pseudomonas aeruginosa in cystic fibrosis. Am. J. Respir. Crit. Care Med. 178 , 921–928 (2008).

Retsch-Bogart, G. Z. et al . A phase 2 study of aztreonam lysine for inhalation to treat patients with cystic fibrosis and Pseudomonas aeruginosa infection. Pediatr. Pulmonol. 43 , 47–58 (2008).

Doring, G., Flume, P., Heijerman, H., Elborn, J. S. & Consensus Study, G. Treatment of lung infection in patients with cystic fibrosis: current and future strategies. J. Cyst. Fibros. 11 , 461–479 (2012).

Tullis, D. E. et al . Inhaled aztreonam for chronic Burkholderia infection in cystic fibrosis: a placebo-controlled trial. J. Cyst. Fibros. 13 , 296–305 (2014).

Wolter, J. et al . Effect of long term treatment with azithromycin on disease parameters in cystic fibrosis: a randomised trial. Thorax 57 , 212–216 (2002).

Saiman, L. et al . Azithromycin in patients with cystic fibrosis chronically infected with Pseudomonas aeruginosa : a randomized controlled trial. JAMA 290 , 1749–1756 (2003).

Saiman, L. et al . Effect of azithromycin on pulmonary function in patients with cystic fibrosis uninfected with Pseudomonas aeruginosa : a randomized controlled trial. JAMA 303 , 1707–1715 (2010).

Clement, A. et al . Long term effects of azithromycin in patients with cystic fibrosis: A double blind, placebo controlled trial. Thorax 61 , 895–902 (2006).

Konstan, M. W., Byard, P. J., Hoppel, C. L. & Davis, P. B. Effect of high-dose ibuprofen in patients with cystic fibrosis. N. Engl. J. Med. 332 , 848–854 (1995).

Lands, L. C. & Stanojevic, S. Oral non-steroidal anti-inflammatory drug therapy for lung disease in cystic fibrosis. Cochrane Database Syst, Rev. 6 , CD001505 (2013).

Auerbach, H. S., Williams, M., Kirkpatrick, J. A. & Colten, H. R. Alternate-day prednisone reduces morbidity and improves pulmonary function in cystic fibrosis. Lancet 2 , 686–688 (1985).

Eigen, H., Rosenstein, B. J., FitzSimmons, S. & Schidlow, D. V. A multicenter study of alternate-day prednisone therapy in patients with cystic fibrosis. J. Pediatr. 126 , 515–523 (1995).

Balfour-Lynn, I. M. & Welch, K. Inhaled corticosteroids for cystic fibrosis. Cochrane Database Syst. Rev. 11 , CD001915 (2009).

Balfour-Lynn, I. M. et al . Multicenter randomized controlled trial of withdrawal of inhaled corticosteroids in cystic fibrosis. Am. J. Respir. Crit. Care Med. 173 , 1356–1362 (2006).

Konstan, M. W. et al . A randomized double blind, placebo controlled phase 2 trial of BIIL 284 BS (an LTB4 receptor antagonist) for the treatment of lung disease in children and adults with cystic fibrosis. J. Cyst. Fibros. 13 , 148–155 (2014).

Hirche, T. O. et al . Practical guidelines: lung transplantation in patients with cystic fibrosis. Pulm. Med. 2014 , 621342 (2014).

Madden, B. P. et al . Noninvasive ventilation in cystic fibrosis patients with acute or chronic respiratory failure. Eur. Respir. J. 19 , 310–313 (2002).

Gill, D. R. & Hyde, S. C. Delivery of genes into the CF airway. Thorax 69 , 962–964 (2014).

Crystal, R. G. et al . Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis. Nat. Genet. 8 , 42–51 (1994).

Harvey, B. G., Hackett, N. R., Ely, S. & Crystal, R. G. Host responses and persistence of vector genome following intrabronchial administration of an E1 − E3 − , adenovirus gene transfer vector to normal individuals. Mol. Ther. 3 , 206–215 (2001).

Knowles, M. R. et al . A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N. Engl. J. Med. 333 , 823–831 (1995).

Moss, R. B. et al . Repeated adeno-associated virus serotype 2 aerosol-mediated cystic fibrosis transmembrane regulator gene transfer to the lungs of patients with cystic fibrosis: a multicenter, double-blind, placebo-controlled trial. Chest 125 , 509–521 (2004).

Moss, R. B. et al . Repeated aerosolized AAV-CFTR for treatment of cystic fibrosis: a randomized placebo-controlled phase 2B trial. Hum. Gene Ther. 18 , 726–732 (2007).

Griesenbach, U. et al . Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy. Am. J. Respir. Crit. Care Med. 186 , 846–856 (2012).

Alton, E. W. et al . A randomised, double-blind, placebo-controlled phase IIB clinical trial of repeated application of gene therapy in patients with cystic fibrosis. Thorax 68 , 1075–1077 (2013).

Bangel-Ruland, N. et al . Cystic fibrosis transmembrane conductance regulator-mRNA delivery: a novel alternative for cystic fibrosis gene therapy. J. Gene Med. 15 , 414–426 (2013).

Wilschanski, M. et al . Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N. Engl. J. Med. 349 , 1433–1441 (2003).

Linde, L. et al . Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin. J. Clin. Invest. 117 , 683–692 (2007).

Kerem, E. et al . Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir. Med. 2 , 539–547 (2014).

Study of ataluren (PTC124 ® ) in cystic fibrosis [online] , (2014).

Van Goor, F. et al . Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc. Natl Acad. Sci. USA 106 , 18825–18830 (2009).

Rowe, S. M. et al . Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am. J. Respir. Crit. Care Med. 190 , 175–184 (2014).

De Boeck, K. et al . Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J. Cyst. Fibros. 13 , 674–680 (2014).

Sloane, P. A. et al . A pharmacologic approach to acquired cystic fibrosis transmembrane conductance regulator dysfunction in smoking related lung disease. PLoS ONE 7 , e39809 (2012).

Flume, P. A. et al . Ivacaftor in subjects with cystic fibrosis who are homozygous for the F508del-CFTR mutation. Chest 142 , 718–724 (2012).

Boyle, M. P. et al . A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial 2 , 527–538 (2014).

Van Goor, F. et al . Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809. Proc. Natl Acad. Sci. USA 108 , 18843–18848 (2011).

Veit, G. et al . Some gating potentiators, including VX-770, diminish ΔF508–CFTR functional expression. Sci. Transl. Med. 6 , 246ra97 (2014).

Cholon, D. M. et al . Potentiator ivacaftor abrogates pharmacological correction of ΔF508 CFTR in cystic fibrosis. Sci. Transl. Med. 6 , 246ra96 (2014).

Okiyoneda, T. et al . Mechanism-based corrector combination restores DeltaF508-CFTR folding and function. Nat. Chem. Biol. 9 , 444–454 (2013).

Accurso, F. J. et al . Denufosol tetrasodium in patients with cystic fibrosis and normal to mildly impaired lung function. Am. J. Respir. Crit. Care Med. 183 , 627–634 (2011).

Ratjen, F. et al . Long term effects of denufosol tetrasodium in patients with cystic fibrosis. J. Cyst. Fibros. 11 , 539–549 (2012).

Burrows, E. F., Southern, K. W. & Noone, P. G. Sodium channel blockers for cystic fibrosis. Cochrane Database Syst, Rev. 4 , CD005087 (2014).

Quittner, A. L., Alpern, A. N. & Kimberg, C. I. in Kendig and Chernick's Disorders of the Respiratory Tract in Children . 8th edn (eds Wilmott, R. W., Boat, T. F., Bush, A., Chernick, V., Deterding, R. R. & Ratjen, F. ) 251–260 (Elsevier (Saunders), 2012).

Book   Google Scholar  

Goss, C. H., Edwards, T. C., Ramsey, B. W., Aitken, M. L. & Patrick, D. L. Patient-reported respiratory symptoms in cystic fibrosis. J. Cyst. Fibros. 8 , 245–252 (2009).

Schmidt, A. M. et al . Exercise and quality of life in patients with cystic fibrosis: A 12-week intervention study. Physiother Theory Pract. 27 , 548–556 (2011).

Schechter, M. S. et al . Long-term effects of pregnancy and motherhood on disease outcomes of women with cystic fibrosis. Ann. Am. Thorac Soc. 10 , 213–219 (2013).

Sawicki, G. S. et al . Longitudinal assessment of health-related quality of life in an observational cohort of patients with cystic fibrosis. Pediatr. Pulmonol. 46 , 36–44 (2011).

Snyder, C. F. et al . Implementing patient-reported outcomes assessment in clinical practice: a review of the options and considerations. Qual. Life Res. 21 , 1305–1314 (2012).

Sawicki, G. S., Sellers, D. E. & Robinson, W. M. High treatment burden in adults with cystic fibrosis: challenges to disease self-management. J. Cyst. Fibros. 8 , 91–96 (2009).

Quittner, A. L. Measurement of quality of life in cystic fibrosis. Curr. Opin. Pulm. Med. 4 , 326–331 (1998).

Goss, C. H. & Quittner, A. L. Patient-reported outcomes in cystic fibrosis. Proc. Am. Thorac. Soc. 4 , 378–386 (2007).

Quittner, A. L. et al . Erratum to: Psychometric evaluation of the Cystic Fibrosis Questionnaire-Revised in a national, US sample. Qual. Life Res. 21 , 1279–1290 (2012).

Donaldson, S. H. et al . Mucus clearance and lung function in cystic fibrosis with hypertonic saline. N. Engl. J. Med. 354 , 241–250 (2006).

Sawicki, G. S. et al . Treatment complexity in cystic fibrosis: trends over time and associations with site-specific outcomes. J. Cyst. Fibros. 12 , 461–467 (2013). References 277 and 281 show the treatment burden and the complexity in patients with cystic fibrosis, respectively.

Quittner, A. L. et al . Impact of socioeconomic status, race, and ethnicity on quality of life in patients with cystic fibrosis in the United States. Chest 137 , 642–650 (2010).

Quittner, A. L. et al . Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of The International Depression Epidemiological Study across nine countries. Thorax 69 , 1090–1097 (2014).

Smith, B. A., Modi, A. C., Quittner, A. L. & Wood, B. L. Depressive symptoms in children with cystic fibrosis and parents and its effects on adherence to airway clearance. Pediatr. Pulmonol. 45 , 756–763 (2010).

Riekert, K. A., Bartlett, S. J., Boyle, M. P., Krishnan, J. A. & Rand, C. S. The association between depression, lung function, and health-related quality of life among adults with cystic fibrosis. Chest 132 , 231–237 (2007).

Goldbeck, L. et al . Prevalence of symptoms of anxiety and depression in German patients with cystic fibrosis. Chest 138 , 929–936 (2010).

Snell, C., Fernandes, S., Bujoreanu, I. S. & Garcia, G. Depression, illness severity, and healthcare utilization in cystic fibrosis. Pediatr. Pulmonol. 49 , 1177–1181 (2014).

Wong, A. P. et al . Directed differentiation of human pluripotent stem cells into mature airway epithelia expressing functional CFTR protein. Nat. Biotech. 30 , 876–882 (2012). References 135 and 288 describe model systems to assess response to CFTR modulators in vitro by either using intestinal organoids or skin-derived pluripotent stem cells transformed into airway epithelial cells, respectively.

Download references

Author information

Authors and affiliations.

Division of Respiratory Medicine, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, 555 University Avenue, Toronto, M5G 1X8, Canada

Felix Ratjen

Department of Thoracic Medicine, Queensland Children's Medical Research Institute, Brisbane, Queensland, Australia

Scott C. Bell

Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, USA

Steven M. Rowe

Division of Pulmonary and Critical Care Medicine, University of Washington Medical Center, Seattle, Washington, USA

Christopher H. Goss

Department of Psychology, University of Miami, Miami, Florida, USA

Alexandra L. Quittner

Paediatrics Section, Imperial College, Paediatric Respirology, National Heart and Lung Institute, and the Royal Brompton Harefield NHS Foundation Trust, London, UK

Andrew Bush

You can also search for this author in PubMed   Google Scholar

Contributions

Introduction (F.R.); Epidemiology (C.H.G.), Mechanisms/pathophysiology (S.M.R. and S.C.B.); Diagnosis, screening and prevention (A.B., F.R. and S.M.R.); Management (S.C.B. and F.R.); Quality of life (A.L.Q.); Outlook (F.R. and A.B.); overview of the Primer (F.R.).

Corresponding author

Correspondence to Felix Ratjen .

Ethics declarations

Competing interests.

S.M.R. has received grants and/or non-financial support from: Cystic Fibrosis Foundation Therapeutics, the US National Institutes of Health (NIH), Vertex Pharmaceuticals, PTC Therapeutics, Novartis, Forest Research Institute, Bayer Healthcare and Galapagos. C.H.G. has received grant funding and/or honoraria from: the NIH (grants P30 DK089507, R01HL103965, R01AI101307 and UM1HL119073), Food and Drug Administration (grant R01FD003704), the Cystic Fibrosis Foundation, Vertex Pharmaceuticals, Transave Inc., L. Hoffmann-La Roche Ltd, Johns Hopkins University, the European Cystic Fibrosis Society, Medscape and Gilead Sciences. He has also participated in Advisory Boards for KaloBios Pharmaceuticals and Transave Inc. A.L.Q. has received grants and/or consulting income from: NIH (grant R01 DC04797), European Union Health Commission (BESTCILIA), National Health and Medical Research Council of Australia, Cystic Fibrosis Foundation Clinical Research Grant, Novartis, Abbott Pharmaceuticals, Vertex Pharmaceuticals and Gilead Sciences. F.R. has received grants and/or consulting fees from: the Canadian Institutes of Health Research, National Heart, Lung, and Blood Institute, the Cystic Fibrosis Foundation, Genentech, Vertex Pharmaceuticals, Novartis, Gilead Sciences, Boehringer Ingelheim and Roche. S.C.B. has received grants, personal fees, speaker's fees and/or non-financial support from the National Health and Medical Research Council of Australia, the Cystic Fibrosis Foundation, the Office of Health and Medical Research, Queensland Health, the Queensland Children's Foundation, Vertex Pharmaceuticals, Novartis and Gilead. He has served on advisory boards for Vertex Pharmaceuticals, Novartis and Rempex and as a site principal investigator in several clinical trials sponsored by Vertex Pharmaceuticals. A.B. is supported by the UK National Institute of Health Research Respiratory Disease Biomedical Research Unit at the Royal Brompton and Harefield National Health Service Foundation Trust and Imperial College London.

PowerPoint slides

Powerpoint slide for fig. 1, powerpoint slide for fig. 2, powerpoint slide for fig. 3, powerpoint slide for fig. 4, powerpoint slide for fig. 5, powerpoint slide for fig. 6, rights and permissions.

Reprints and permissions

About this article

Cite this article.

Ratjen, F., Bell, S., Rowe, S. et al. Cystic fibrosis. Nat Rev Dis Primers 1 , 15010 (2015). https://doi.org/10.1038/nrdp.2015.10

Download citation

Published : 14 May 2015

DOI : https://doi.org/10.1038/nrdp.2015.10

Share this article

Anyone you share the following link with will be able to read this content:

Sorry, a shareable link is not currently available for this article.

Provided by the Springer Nature SharedIt content-sharing initiative

This article is cited by

Solvent effects in anion recognition.

• Sophie C. Patrick
• Paul D. Beer
• Jason J. Davis

Nature Reviews Chemistry (2024)

Dual-color live imaging unveils stepwise organization of multiple basal body arrays by cytoskeletons

• Gen Shiratsuchi
• Satoshi Konishi
• Sachiko Tsukita

EMBO Reports (2024)

Longitudinal microbial and molecular dynamics in the cystic fibrosis lung after Elexacaftor–Tezacaftor–Ivacaftor therapy

• Christian Martin
• Douglas V. Guzior
• Robert A. Quinn

Respiratory Research (2023)

Lung development and regeneration: newly defined cell types and progenitor status

• Xiaogao Meng
• Guizhong Cui
• Guangdun Peng

Cell Regeneration (2023)

Fractional Exhalation Nitric Oxide (FeNO) changes in cystic fibrosis patients induced by compound honey syrup: a pretest–posttest clinical trial

• Hanieh Tahermohammadi
• Shima Derikvandi

BMC Pulmonary Medicine (2023)

Quick links

• Explore articles by subject
• Guide to authors
• Editorial policies

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

There are many manifestations of CF that can suggest the diagnosis.

Presentations

Prenatal diagnosis.

Pregnant women may have a simple blood test to look for common mutations (abnormalities) in the CFTR gene that cause cystic fibrosis (CF). If she carries one CFTR gene mutation. There is a 50 percent chance that this CFTR gene mutation will be passed on to the baby. If the father is also a carrier of a CFTR gene mutation there is a 25 percent (1 in 4) chance that the baby will have CF. Amniocentesis or chorionic villus sampling (CVS) sampling can be used for prenatal diagnosis of the baby. Prenatal screening does not test for all the known CFTR gene mutations, therefore, children can still be diagnosed with CF even if prenatal testing was normal or negative.

Inheritance pattern of normal (N) or mutated (M) CFTR genes from parents who carry an abnormal copy of the CFTR gene.

Newborn Screening

All 50 states perform newborn screening of infants to test for hypothyroidism, phenylketonuria, and several other diseases, including CF. The newborn screen tests a small amount of blood, usually obtained from the baby’s heel. The goal of newborn screening is to diagnose CF before any symptoms develop. Newborn screening tests vary from state to state. Maryland added a test for CF to its newborn screening program in 2006. Not all infants with a “positive” newborn screen have CF. Therefore, infants with a “positive” newborn screening test for CF should be referred for a sweat test to confirm the diagnosis.

Additionally, newborn screening does not detect all children with CF. Therefore, children with symptoms that could be caused by CF should be evaluated with a sweat test even if the newborn screening was “normal” or “negative.”

Meconium Illeus

Approximately 18 percent of infants with CF present with meconium ileus (MI), which is an obstruction of the bowel caused by thick, abnormal meconium. Meconium ileus is suspected if a baby fails to pass meconium shortly after birth and develops symptoms of a bowel obstruction, such as abdominal distention or vomiting. Meconium ileus can lead to bowel perforation, a twisting of the bowel, or inflammation and infection in the abdomen.

Meconium ileus must be treated immediately to prevent complications. In some cases, enemas can be used to flush out the meconium. However, in severe cases, surgery is required to remove the obstruction. All babies with meconium ileus should be tested for CF because 98 percent of full-term babies with meconium ileus have CF.

A hyperechoic or echogenic bowel pattern is a prenatal ultrasound finding that suggests an intestinal obstruction caused by abnormal meconium. Among fetuses who have a prenatal ultrasound with hyperechoic bowel, about 1 in 10 will have CF and meconium ileus. In pregnancies where there is evidence of fetal bowel obstruction on prenatal ultrasound, both parents can be tested to find out if they carry CFTR gene mutations. Sometimes an echogenic bowel is a transient finding that resolves by the third trimester.

A. Illustration of intestine blocked by meconium. B. Abdominal x-ray of a newborn infant with meconium ileus showing dilated loops of bowel.

Respiratory Problems

Compare the normal lung airway to the lung airway with CF and bacterial infection or with CF and inflammation.

The respiratory problems associated with CF can present at any age, and can affect both the upper and lower respiratory tracts. Recurrent or chronic sinus infections are common in people with CF. The possibility of CF should be considered in individuals with severe sinus disease or nasal polyps. Sinus CT scans of people with CF almost always show abnormal sinus cavities full of mucus.

Recurrent respiratory symptoms or infections may suggest the diagnosis of CF. The most prominent feature of lower respiratory tract disease in CF is a chronic cough. Sputum production is present in more severe lung disease.

Chest x-rays often show hyperinflation, small collapsed portions of the lung, mucus pugging or infection. People with CF may be affected by recurrent pneumonia, bronchitis and/or wheezing. Bronchiectasis can be observed in CT scans of the chest. Airways infection with certain bacteria such as Pseudomonas aeruginosa also suggest the diagnosis of CF.

Gastrointestinal Problems

Pancreatic insufficiency.

The gastrointestinal tract is frequently affected in CF. Approximately 80 percent of individuals with CF have pancreatic insufficiency. In these people, abnormal secretions block the passages within the pancreas leading to scarring and inadequate enzyme excretion into the intestine. Pancreatic insufficiency leads to malabsorption, (improper digestion of food) especially fats and difficulty gaining weight. In children, poor weight gain often results in growth below the standard growth curves and is called failure to thrive. Children with failure to thrive should be tested for CF, especially if they have abnormal stools or respiratory problems.

Unusual Presentations

Cftr-related disorder.

Most individuals with CF have respiratory and gastrointestinal problems. However, some people without the usual features of CF may have a “positive” (abnormal) or intermediate sweat test . They may have only one or no known CFTR gene mutations, instead of the two mutations seen in most people with CF. The diagnosis of CFTR-related disorder is applied to these people with these atypical presentations. Symptoms of CFTR-related disorder may include chronic sinus disease, nasal polyps, pancreatitis, or males infertility. Individuals with atypical CF presentations usually do not have pancreatic insufficiency and they are often diagnosed at an older age.

Chronic Sinus Disease

The sinuses are affected in almost all individuals with CF.  CT scans of the sinuses   almost always show abnormalities including sinuses filled with mucus or pus rather than air. Recurrent sinus infections can be a sign of CF, especially if caused by certain bacteria such as  Pseudomonas aeruginosa .

The mucosa, or lining, of the nasal passages in people with CF is often red and swollen. Nasal polyps may develop in this inflamed nasal mucosa. Symptoms of nasal polyps include stuffy nose, mouth breathing, snoring, nasal pain, change in voice, distortion or widening of the nasal bridge, or nose bleeds. Because nasal polyps are uncommon in the general population, individuals with nasal polyps should be tested for CF.

Pancreatitis

Acute pancreatitis has been reported in about 15 percent of individuals with CF.  Symptoms include severe abdominal pain and vomiting. People with pancreatitis may or may not have chronic pulmonary symptoms. Individuals with pancreatitis typically produce adequate pancreatic enzymes and are not affected by malabsorption or failure to thrive.

Congenital Bilateral Absence of the Vas Deferens (CBAVD)

Congenital bilateral absence of the vas deferens (CBAVD) leads to the absence of sperm (azoospermia) in men with CF. Almost all post-pubertal males with CF have azoospermia, leading to infertility. Some men with CBAVD due to CFTR gene mutations have no other features of CF. These individuals may have normal, intermediate, or elevated sweat chloride concentrations. People with CBAVD should be monitored for the development of other CF-related complications.

• Jacobs School of Medicine and Biomedical Sciences >
• News & Events >
• School News >

UB Contributing to Dramatic Results in CF Care, Research

( EDITOR’S NOTE:  This is the first installment in a three-part series recognizing Cystic Fibrosis Awareness Month. For the next two Wednesdays in May, stay tuned for more stories on UB’s research and clinical care efforts in the area of cystic fibrosis.)

By Dirk Hoffman

Published May 8, 2024

One of the most dramatic success stories in modern medicine is the treatment of cystic fibrosis (CF), where therapeutic breakthroughs have dramatically reduced patients’ symptoms and increased their life expectancies.

Researchers and clinicians at the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo have played key roles in developing game-changing discoveries such as cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies that are designed to correct the malfunctioning protein made by the CFTR gene. Their efforts are continuing on a daily basis as they seek to develop more novel and improved therapies.

Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas and other organs.

There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), according to the Cystic Fibrosis Foundation.

During the 1950s, a child with CF rarely lived long enough to attend elementary school. Today, many people with CF are achieving their dreams of pursuing careers, getting married and having children, and living into retirement.

Four Jacobs School faculty members involved with CF recently sat for a roundtable discussion on the state of the disease, new therapeutics and clinical guidelines, and some of the new challenges facing the population.

The faculty members are:

• Carla A. Frederick, MD , associate professor of medicine . She is an adult pulmonologist who takes care of individuals with CF at the CF Center of Western New York. She co-directs the CF research program at the center through the Cystic Fibrosis Foundation’s Therapeutics Development Network (TDN). She sees patients through UBMD Internal Medicine .
• Danielle M. Goetz, MD , clinical associate professor of pediatrics . She is a pediatric pulmonologist at Oishei Children’s Hospital and UBMD Pediatrics and director of the Cystic Fibrosis Center of WNY. She co-directs the CF research program at the center through the Cystic Fibrosis Foundation’s TDN. At the national level, she is serving on the position paper for the new CF Care Model for the CF Foundation and is a leader for the Foundation’s Quality Improvement Network’s mental health lab.
• Ryan C. Hunter, PhD , associate professor of microbiology and immunology . His lab is a group of microbiologists who focus on the bacterial infections that impact the lungs of individuals with cystic fibrosis. The researchers think about how these bacteria are behaving at the site of infection within the lungs of the patient and try to come up with new therapeutic strategies moving forward that can be used to better combat these infections.
• Beth A. Smith, MD , clinical professor of psychiatry and pediatrics and interim chair of psychiatry and division chief for child and adolescent psychiatry . On the national level, she serves as chair of the Cystic Fibrosis Foundation’s Mental Health Advisory Committee, whose goal is the integration of mental health care into routine CF care. Smith also serves on the CF Foundation’s North American Planning Committee as its pyschosocial chair, and on its Clinical Research Advisory Board. Her research is focused on mental health and cystic fibrosis, specifically around anxiety, depression and its effect on disease outcomes, as well as appearance. Smith is also involved in multiple intervention trials, specifically for depression and anxiety, including randomized, controlled trials for CF-specific cognitive behavioral therapy.

Danielle M. Goetz, MD, examines Muhammad Rafay at the UBMD Pediatric Outpatient Center at Conventus. The baby’s family resettled in Buffalo from Pakistan. The New York State newborn screening program revealed the baby has two copies of a CF mutation that is more common in Pakistan.

What is the current state of cystic fibrosis and the research and clinical care surrounding it?

Goetz: It is an exciting time because for those of us who have been involved with CF for many years, we have seen a lot of changes such as a lot of treatments that we did not have previously — mostly the CFTR modulators (the most famous one is elexecaftor-tezacaftor-ivacaftor, or Trikafta) approved for people as young as age 2 as of 2021.

These therapies are helping people live longer lives; they help their pulmonary function and their weight gain. Their overall quality of life improves.

Frederick: When I first started in medicine, I saw so many young patients that did not have a very long life expectancy.

Now, it is almost like a mid-career change for me. Earlier in my career, I was caring for adults who were inevitably getting sicker and who were going for lung transplants, on oxygen, and would need to apply for disability.

Now, in addition to routine daily care, the most common issues adults with CF face are things like thinking about careers, figuring out what they are going do with their life that they never thought they would have to do before — having kids, having grandchildren.

In Buffalo, we have a high percentage of people who have access to CFTR modulator therapy. We currently have 116 adult patients and 68 pediatric patients. It has completely flipped from when we started. There used to be more pediatric patients than adult patients.

Smith: As the life expectancy has increased, it has caused some good challenges. Patients with CF did not plan to live that long. They did not plan for college or a career.

Now some of them are old enough to retire so there are a lot of issues around future planning. They are dealing with conditions such as osteoporosis and dementia — comorbidities that people did not live long enough to have.

Hunter: From a research perspective, it is an exciting time as well. We are most interested in the bacterial infections of the lungs and the nature of those are changing. With these modulator therapies, lung function is improving.

The pathogens are still hanging around, but lung function is getting better. It’s interesting to think about what airway infections are going to look like, moving forward. We are shaping our research in that direction, just trying to think about what lung infection might become, but also some of the comorbidities as well.

For instance, there is an increased risk in colorectal cancer in the aging CF population so my lab is also now thinking about gut microbes and what kind of role they might play in gastrointestinal manifestations of the disease.

CF as a disease ties in really well, timing-wise, with UB’s commitment to aging research. I think it is a great case study of what the aging population is facing.

Tap infographics to enlarge.

Can you speak to the importance of multidisciplinary teams at the CF centers?

Goetz: I think they are a key to the outcomes we have had, even prior to the modulators. The concept of a multidisciplinary care network idea started in the 1960s. In 1997, it became more standardized as there was a guidebook made by the CF Foundation and others.

Key team members are respiratory therapists, dietitians, social workers/mental health providers, physicians and nurses, along with other subspecialists.

Having that team has helped us in our assessment and treatment of the patients. We are assessing the whole person and making sure we are addressing all aspects of care. Each person focuses on and becomes experts in the area of the daily treatments that patients with CF have to undergo.

It is a collaborative effort. We do a lot of pre-visit planning, prior to the clinic visits and try to include the patients in that.

Carla A. Frederick, MD, is an adult pulmonologist who takes cares of individuals with CF at the CF Center of Western New York.

What are some of the common comorbidities among patients with CF?

Frederick: Traditionally, pulmonary disease — and nutritional deficits with the inability to absorb fat nutrients — those two areas have treatments for them that CF centers have provided for a number of years.

Also, more commonly as individuals age, CF-related diabetes is one that over half of individuals with CF have some form of, that might move on a spectrum throughout their life

Some individuals have had many treatments over time, that could be toxic to their kidneys so chronic renal disease can develop in some.

Cancer is another big one that is emerging in understanding, and there is not a way where we can just implement screening like the general population. Some of these cancers in the GI form come faster than you would have predicted.

Also, we are in a culture where we always think of mental health, anxiety and depression as something that comes along with chronic illness, especially this one. This is not something that is simply related to feeling down when their heath is worse off, it can also occur when they are feeling better. There are a lot of people who have guilt associated with surviving longer than siblings or friends with CF, or when someone improved on CFTR modulator therapy some feel like their own identity is lost when this new, healthier person evolves.

Hunter: Chronic sinus infection is another one. About 95 percent of patients with CF have them. Maybe not lethal directly, but it is a risk factor for lower airway infection.

How are new therapies and better outcomes affecting the mental well-being of patients with CF?

Smith: It depends on where you are on the lifespan. The children that are born now are going to have a much different mental health trajectory than those who were raised thinking they are going to die earlier than they are.

When the life expectancy changed, it also stirred up a lot of trauma. We are doing a study right now, hearing personal narratives from patients with CF across the lifespan. In the over 50 age group, medical traumatic stress and procedure anxiety is ubiquitous.

These are individuals who have had many, many procedures throughout their life and many traumatic medical procedures and the trauma from them has been layered throughout their lifespan. I feel the interventions we are providing now earlier and earlier are going to result in a much different trajectory.

Is the isolation that patients with CF often feel still a legitimate concern?

Smith: There is often talk about a lack of understanding. During the COVID-19 pandemic, some positives came out of it in that people understood the idea of isolation, of that worry of getting an infection that can potentially kill you.

We all got a taste of that. In some ways, it gave credibility to everything that patients with CF have been going through across their lifespan.

Frederick: The reasons for these isolation guidelines is because of the fear for cross-contaminating different individuals with CF with different strains of bacteria that could become harmful.

Hopefully, future research will lead to relaxing those guidelines because quality of life is important. Separating people in time and space and touch is kind of cruel in this lifelong illness where finding someone who truly understands one’s point of view is difficult.

Beth A. Smith, MD, is involved in a number of  mental health clinical trials that involve cystic fibrosis-specific cognitive behavioral intervention for depression and anxiety and the development of a CF-specific general mental health screener.

What are some of the ongoing clinical trials happening at UB?

Goetz: In children, we are doing observational studies on preschoolers who are on Trikafta, and seeing what happens to their growth parameters and pulmonary function.

We are also doing surveys on personal experience with Trikafta in adolescents. We received a grant from the CF Foundation for all the newborn screening programs at the CF centers in New York state to assure all people with CF and their families have genetic counseling from a genetic counselor trained in CF. This is important due to the increasing complexity of CF genetics and to address unique CF mutations in diverse populations.

Frederick: We are involved in a rollover study from a head-to-head trial between current modulator therapy (elexacaftor/tezacaftor/ivacaftor) versus a once-a day alternative.

It is in the rollover phase where everyone is getting the once-a-day alternative therapy.

Taking a pill twice a day versus once-a-day may seem simple, but it isn’t. There is not a one-size-fits-all. Some people may feel that the current therapy is not good enough because “xyz” side effects happen — weight gain, mental health side effects such as anxiety, etc. Some simply do not have as strong of an improvement as desired.

These therapies are life-changing so more personalized medicine is in the works elsewhere to help make that therapy really great for everybody.

We participated in all the trials coming up to this present modulator therapy.

We dosed the first person with ivacaftor in the world here in Western New York and she just had her second baby a couple of months ago.

We have had a long history of recruiting people with CF to participate and families at first didn’t know what they were getting into, but now enter those trials with hope and excitement.

Smith: In addition to the medication trials, we’ve had a few mental health trials. We worked hard on a randomized, controlled trial of a cystic fibrosis-specific cognitive behavioral intervention for depression and anxiety. We are now in the adolescent pilot phase of the study. Buffalo is also involved in a national randomized, controlled implementation trial. We are implementing different models of how to disseminate this cognitive behavioral therapy that is specific to CF and we are studying it in a randomized way.

Buffalo is also the lead site in a multisite project to develop a CF-specific general mental health screener to pick up on other important and impactful mental health conditions in addition to depression and general anxiety for adults with CF.  

We also have the longest longitudinal database for depression and anxiety screening and are looking at the longitudinal trajectories of depression and anxiety in patients with CF 12 years and older and associations to important health outcomes.

Ryan C. Hunter, PhD, serves on the Cystic Fibrosis Foundation’s basic science grant review committee, which helps the CF Foundation establish its priorities and decide what to fund.

Can you talk about your roles on a national level within the Cystic Fibrosis Foundation?

Smith: I am the founding chair of its mental health advisory committee. It came about after the international guidelines for mental health screening and treatment in CF, where I led the screening portion. The Foundation wanted to figure out how to disseminate and implement these guidelines in the care centers across the U.S. With our initiatives, currently over 95% of individuals with CF 12 and older are screened annually across U.S. CF Centers.

We’ve taken that show on the road and worked to help implement the mental health in CF guidelines in Australia and across Europe. We have international membership on our committee and many of the resources we have created have been translated into 50+ languages.

In some countries without a lot of mental health infrastructure, when individuals are screened for depression and anxiety, that may be one of the only resources they are given.

Frederick: We are also involved in the Success With Therapy Research Consortium that is a branch of the Foundation’s research efforts to help partner with people with CF and their families to see how we can help improve health and self-management.

In a randomized, controlled trial, we are measuring everything and all visits are structured. But in the real world, when things like parenting or having a job, or having a friend come into the mix, does using this therapy still work? We perform some observational research to study these things.

We are involved in a lot of survey studies of qualitative research. Nutrition is a huge topic. In the new era of widely available modulator therapy, what does the world of nutrition look like? There is a study where we are learning about attitudes toward nutrition.

It seems like it would be a no-brainer to take this modulator therapy, but there are lots of other variables, so we are participating in a survey study with all sorts of different parameters for people to see what kind of modifiable or non-modifiable factors are affecting the week they take modulator therapy.

These studies are a really nice way we round out our center. We have mental health; we have care, and we have clinical research, and we have this other consortium where we partner with people with CF to see if we are really on the right track to help their lives be better.

Goetz: We are working with the CF Learning Network, which is the Quality Improvement Network for the CF Foundation. At our center, we do QI projects on all sorts of topics.

They asked me to be co-director of the laboratory on mental health to help design QI projects that the whole network can use. I am also serving on the CF Foundation committee, writing a position paper on the new CF Care Model in 2023-2024.

I have also served on the Foundation’s Therapeutics Development Network (TDN) steering committee. We get to look at all the protocols and see what is coming down the pipeline. We get to help shape what TDN is looking at for the sites.

Right now, they are doing gene editing and mRNA studies, so we are in a regional network of the TDN. We meet with other centers like Pittsburgh, West Virginia, Rochester and Syracuse.

They know there may not be a lot of subjects in Buffalo or each individual center who are eligible for genetic therapy, but we may be able to refer people to other centers within the network. The TDN is dividing the centers into geographic regions so people may more easily participate in studies.

Hunter:  I serve on the basic science grant review committee. Twice a year, a bunch of mostly basic researchers get together and we review applications. They are mostly U.S.-based, but they do accept international.

About 20-to-30 of us get together to review the science, to help the CF Foundation establish its priorities and decide what to fund. We try to make recommendations on which science is the strongest and which proposals are most worthy of being supported by the Foundation.

Is there something about Buffalo or UB’s collaborative spirit that helps your efforts?

Smith: When I first got involved with Drucy (Drucy S. Borowitz, MD, who served as the Cystic Fibrosis Center director at the former Woman and Children’s Hospital of Buffalo for more than 25 years) and some of the other pulmonologists, they were excited to have a child and adolescent psychiatrist who was interested in chronic illness and recognized the need for that.

They were doing collaborative care before it was called collaborative care. I was brought in as another specialist and wound up spending my career in CF because of the multidisciplinary nature and the spirit of collaboration.

Goetz: I became the CF center director in 2014, so we did a year where Dr. Borowitz and I were co-directors before that. She mentored me and we transitioned, but then she was still here until she went to the CF Foundation. Even while working at the CF Foundation, Dr. Borowitz was always there as our mentor. She was always in our corner, always available.

Smith: We would be putting in grants or writing a paper that got rejected for the second time, and Drucy would just take her proverbial red pen and very magically make edits. She was such a great mentor.

Goetz: We are trying to carry on the tradition she started.

Smith: Buffalo is a small center and yet we are involved in so many of these groundbreaking CF research projects. We have such a cohort.

I think it is due to Dr. Borowitz and her culture that patients and their families are very giving of themselves to our studies. Our rates of participation in studies are higher than most centers. Although we are small, we are mighty.

And the individuals are a part of this team of researchers. We have patient advisers on every one of our grants. And all of the educational materials are co-written with individuals with CF.

It has been just a great experience because many of them have said “I never thought I was going to be a researcher” or “I never thought I was going to be an author.”

Goetz: We are working on a CF Foundation position paper that I am helping to write in a group that includes patients and parents. It is asking the question if we need to change the care model now that we have modulators.

Patients and families should be a part of those discussions because they are the ones living it.

Smith: Their lived experience puts everything that we do into context. They are able to look at what we are producing and give us that feedback.

There is so much resilience in this population. Their survival stories are now thriving stories.

( Next Week:  A look at the career of Drucy S. Borowitz, MD, a leader in cystic fibrosis care and research, who changed the course of the disease in Western New York.)

Upcoming Events