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Picture of the chromosome carrying the gene of the disorder.

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Picture of the chromosome carrying the gene of the disorder.

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To have Cystic Fibrosis you have to get two copies of the CFTR gene that contains a mutated copy from each parent to have cystic fibrosis.

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To have Cystic Fibrosis you have to get two copies of the CFTR gene that contains a mutated copy from each parent to have cystic fibrosis.

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Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease.

What Is 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.

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.

Symptoms of CF

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

Genetics and Diagnosis

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:

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.

What to Expect

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.

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.

Managing CF

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.

Research

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.

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Learn about cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs, and how to treat and live with this chronic disease. What Is Cystic Fibrosis? Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs.

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Cystic Fibrosis Foundation is an organization promoting the disorder.

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Cystic Fibrosis Foundation is an organization promoting the disorder.

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Caring for yourself or someone you love

People with CF are living longer, healthier lives than ever before. There will be challenges - but specialized care, a range of treatment options, and taking proper precautions can help you ultimately find a balance between CF and your life.

You're among an amazing community of people

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Caring for yourself or someone you love People with CF are living longer, healthier lives than ever before. There will be challenges - but specialized care, a range of treatment options, and taking proper precautions can help you ultimately find a balance between CF and your life.

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The NHLBI is supporting new research for genetic therapy that could be used to treat cystic fibrosis 

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The NHLBI is supporting new research for genetic therapy that could be used to treat cystic fibrosis 

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The NHLBI leads and supports research on cystic fibrosis to develop new treatments and ways to improve quality of life.

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Treatment for cystic fibrosis include antibiotics to prevent or treat chest infection, medicine to thin out mucus in lungs to make it easier to cough up,and medicine to widen airways and help inflammation.

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Treatment for cystic fibrosis include antibiotics to prevent or treat chest infection, medicine to thin out mucus in lungs to make it easier to cough up,and medicine to widen airways and help inflammation.

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Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus. Learn about its symptoms and treatments.

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To have Cystic Fibrosis you have to get two copies of the CFTR gene that contains a  mutated copy from each parent to have cystic fibrosis.

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To have Cystic Fibrosis you have to get two copies of the CFTR gene that contains a  mutated copy from each parent to have cystic fibrosis.

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The symptoms for cystic fibrosis are antibiotics to prevent and treat chest infections. medicines to make the mucus in the lungs thinner and easier to cough up. medicines to widen the airways and reduce inflammation. special techniques and devices to help clear mucus from the lungs.

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The symptoms for cystic fibrosis are antibiotics to prevent and treat chest infections. medicines to make the mucus in the lungs thinner and easier to cough up. medicines to widen the airways and reduce inflammation. special techniques and devices to help clear mucus from the lungs.

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Cystic fibrosis is an inherited condition in which the lungs and digestive system can become clogged with thick, sticky mucus. Learn about its symptoms and treatments.

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there are about 70,000 people around the world that have cystic fibrosic.

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there are about 70,000 people around the world that have cystic fibrosic.

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Cystic fibrosis is a genetic (inherited) condition that causes severe damage to the lungs, digestive system and other organs in the body. The mucus normally secreted by cells in the lung airways (breathing tubes), pancreatic ducts, gastrointestinal tract, and the reproductive system becomes thickened and blocked, causing frequent infections and loss of function in the affected organs.

Key Facts

Cystic fibrosis is a life-threatening, genetic condition.

Both parents have to be carriers of an abnormal gene that gets passed on to their child for the child to have CF.

People with this condition produce a faulty CFTR protein that affects the cells of the body that produce mucus and sweat.

There are about 30,000 people with cystic fibrosis in the United States and approximately 70,000 people worldwide. Approximately 1 in 30 Americans is a carrier.

There is no cure for CF, but treatment is available. Because of improved care, the average life expectancy has been steadily increasing since the 1950s and is currently close to 40 years.

It is most common in Caucasians.

How Cystic Fibrosis Affects Your Body

Patients with CF suffer from a cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, which causes the CFTR protein to malfunction. The CFTR protein is located in every organ of the body that makes mucus; including the lungs, liver, pancreas, intestines and sweat glands. It is also present in many other cells in the body. When the CFTR protein isn't working correctly, thick, sticky mucus is produced that causes blockages and traps germs, leading to infections.

In the lungs, this thick mucus can obstruct (clog) the airways. The mucus creates an environment for bacteria to grow, causing infections and further inflammation. Over time, this damages the airways and eventually the lung tissue, which can lead to respiratory failure. This vicious cycle is also why people with cystic fibrosis are more susceptible to developing other chronic infections including bronchitis, bronchiectasis, pneumonia, hemoptysis (coughing up blood), nasal polyps and pneumothorax (collapsed lung), to name a few.

Many other organs in the body are affected by the CFTR protein malfunction. Scarring, caused by blocked ducts in the pancreas, leads to reduced absorption of fat and vitamins. In the digestive tract, intestinal secretions can become much thicker than normal, causing blockages that may require surgery. In the liver, ducts can be blocked causing damage to the liver cells and cirrhosis. In the reproductive tract, increased mucus can cause decreased fertility or infertility in both men and women.

What Causes Cystic Fibrosis?

CF is an inherited disorder caused by having two abnormal copies of the CF gene. You cannot catch or acquire CF. It can occur in people who have no known family history of the disease because people with one abnormal CF gene (called "carriers") are usually healthy.

Who Is at Risk?

The only risk factor for getting CF is having two parents who carry abnormal CF genes and pass the abnormal gene on to their child. However, some factors impact how severe the CF is.

Genes: CF gene mutations are divided into classes based on how damaged the CFTR protein function is. Classes I, II and III are generally more severe causing "classic CF." Classes IV and V are usually milder. Also, other genes called modifier genes can affect a person's symptoms and outcome.

Environment and lifestyle: People with CF need to consume a very large number of calories to maintain weight and grow, which can be difficult to achieve. Physical activity is also important to help keep lungs healthy. People with CF should not smoke or be exposed to secondhand smoke, as it will worsen lung disease. You should also be careful with alcohol intake and avoid it altogether if you have liver disease.

Age: CF worsens with age. If you have CF, you usually experience a small decline in lung function each year.

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Cystic fibrosis is a genetic (inherited) condition that causes severe damage to the lungs, digestive system and other organs in the body. The mucus normally secreted by cells in the lung airways (breathing tubes), pancreatic ducts, gastrointestinal tract, and the reproductive system becomes thickened and blocked, causing frequent infections and loss of function in the affected organs.

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The exact name of cystic fibrosis is mucoviscidosis

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The exact name of cystic fibrosis is mucoviscidosis

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Learn about chronic infections, the cause why bacteria turns chronic in cystic fibrosis patients, and why standard antibiotics are unable to the bacteria

See all videos for this article

cystic fibrosis (CF), also called mucoviscidosis, formerly cystic fibrosis of the pancreas, an inherited metabolic disorder, the chief symptom of which is the production of a thick, sticky mucus that clogs the respiratory tract and the gastrointestinal tract. Cystic fibrosis was not recognized as a separate disease until 1938 and was then classified as a childhood disease because mortality among afflicted infants and children was high. However, by the mid-1980s, more than half of all victims of cystic fibrosis survived into adulthood because of aggressive therapeutic measures.

Cystic fibrosis is an inherited disorder mainly affecting people of European ancestry. It is estimated to occur in 1 per 2,500 to 4,500 live births in these populations and is particularly concentrated in people of northwestern European descent. It is much less common among people of African ancestry (about 1 per 17,000 live births) and is very rare in people of Asian ancestry. The disorder was long known to be recessive-i.e., only persons inheriting a defective gene from both parents will manifest the disease. The disease has no manifestations in heterozygotes-i.e., those individuals who have one normal copy and one defective copy of the particular gene involved. However, when both parents are heterozygous, they may expect that, on the basis of chance, one out of four of their offspring will have the disease. In 1989 the defective gene responsible for cystic fibrosis was isolated. The gene, called cystic fibrosis transmembrane conductance regulator, or CFTR, lies in the middle of chromosome 7 and encodes a protein of the same name, designated CFTR.

Cystic fibrosis affects the functioning of the body's exocrine glands-e.g., the mucus-secreting and sweat glands-in the respiratory and digestive systems. Within the cells of the lungs and gut, the CFTR protein transports chloride across cell membranes and regulates other channels. These functions are critical for maintaining and adjusting the fluidity of mucous secretions. Most cases of cystic fibrosis are caused by a mutation that corresponds to the production of a CFTR protein that lacks the amino acid phenylalanine. As a result, chloride and sodium ions accumulate within cells, thereby drawing fluid into the cells and causing dehydration of the mucus that normally coats these surfaces. The thick, sticky mucus accumulates in the lungs, plugging the bronchi and making breathing difficult. This results in chronic respiratory infections, often with Staphylococcus aureus or Pseudomonas aeruginosa. Chronic cough, recurrent pneumonia, and the progressive loss of lung function are the major manifestations of lung disease, which is the most common cause of death of persons with cystic fibrosis.

In the digestive system, the abnormally thick mucous secretions interfere with the passage of digestive enzymes and thus block the body's absorption of essential nutrients. The resulting maldigestion and malabsorption of food can cause affected individuals to become malnourished despite an adequate diet. Bulky, greasy, foul-smelling stools are often the first signs of cystic fibrosis. About 10 percent of infants with cystic fibrosis have intestinal obstruction at birth due to very thick secretions. In addition, mutations in the CFTR gene are associated with degeneration of the ductus deferens and sterility in adult males who have cystic fibrosis.

Cystic fibrosis causes the sweat glands to produce sweat that has an abnormally high salt content. The high salt content in perspiration is the basis for the "sweat test," which is the definitive diagnostic test for the presence of cystic fibrosis. Mutations associated with cystic fibrosis can be detected in screening tests. These tests are effective in the identification of adult carriers (heterozygotes), who may pass a mutation on to their offspring, as well as in the identification of newborns who may be at risk for the disorder.

The treatment of cystic fibrosis includes the intake of pancreatic enzyme supplements and a diet high in calories, protein, and fat. Vigorous physical therapy on a daily basis is used to loosen and drain the mucous secretions that accumulate in the lungs. Medications such as dornase alfa, a recombinant form of the enzyme deoxyribonuclease, are given to thin mucus, facilitating its clearance from the lungs through coughing. In addition, bronchodilators can be used to relax the smooth muscles that line the airways and cause airway constriction, making it easier for patients to breathe. These agents may be administered by means of an inhaler or a nebulizer, which is powered by a compressor that sprays aerosolized drug into the airways. The anti-inflammatory agent ibuprofen has been shown to slow the deterioration of lung tissue in some cystic fibrosis patients. In severe cases, lung transplantation may be considered. Many patients with cystic fibrosis regularly take antibiotics, sometimes in aerosolized form, in order to fight lung infections.

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Among the most promising treatments under investigation for cystic fibrosis is gene therapy. Gene therapy first emerged as a potential form of treatment in 1990, when researchers successfully restored CFTR chloride channel function in cultured lung and airway epithelial cells that carried CFTR mutations. The researchers used recombinant DNA technology to generate viral vectors containing normal copies of the CFTR gene. These vectors were then transfected into the cultured cells, which subsequently incorporated the normal genes into their DNA. This success led to the first clinical trial of gene therapy for cystic fibrosis in 1993. The same technology was used to insert the CFTR gene into a replication-deficient adenovirus that was then administered into the noses and lungs of patients. This first trial initially appeared to be successful, since increased expression of the CFTR protein was observed shortly after treatment. However, the patients experienced severe side effects, including lung inflammation and signs of viral infection. Since the 1990s, gene therapy for cystic fibrosis has undergone significant refinement, and the outcomes of clinical trials are marked by steady improvement. However, the natural defense systems of the lungs and airways have proved significant obstacles to cellular uptake of the viral vector carrying the normal CFTR gene. As a result, the development of an effective gene delivery system has become a major focus of cystic fibrosis gene therapy. Delivery systems under investigation include cationic polymer vectors, cationic liposomes, and adenovirus associated virus. The latter, which can bind to a type of receptor expressed in high numbers on the surfaces of lung cells, has proved particularly effective in laboratory studies using human lung tissue.

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Cystic fibrosis (CF) | Definition, Causes, Symptoms, & Treatment

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cystic fibrosis (CF), also called mucoviscidosis, formerly cystic fibrosis of the pancreas, an inherited metabolic disorder, the chief symptom of which is the production of a thick, sticky mucus that clogs the respiratory tract and the gastrointestinal tract.