What is cystic fibrosis

Cystic fibrosis affects many parts and systems of the body. Complications will depend on the affected organs and the severity of disease. People who have cystic fibrosis produce thick, sticky mucus that causes problems in the lungs and digestive system. The buildup of mucus in the lungs makes it easy for bacteria to grow and often leads to serious lung infections.

People who have cystic fibrosis often have problems with nutrition, too, because their pancreas does not work properly. Your doctor may diagnose cystic fibrosis based on your signs and symptoms and results from certain tests, such as genetic and sweat tests that are done to confirm screening tests. To diagnose cystic fibrosis, your doctor may recommend some of the following tests and procedures:.

The sweat test detects a higher amount of chloride—a component of salt that is made of sodium and chloride—in the sweat of people who have cystic fibrosis. In order to make sweat for this test, a colorless, odorless chemical and a little electrical stimulation are applied to a small area of an arm or leg. The sweat is collected and sent to a hospital lab for testing. While there is not yet a cure for cystic fibrosis, advances in treatment are helping people live longer, healthier lives.

To better manage your condition, you or your child will work with cystic fibrosis specialists. In newborns with a positive screening result, treatment may begin while the diagnosis is being confirmed.

Treatment for cystic fibrosis is focused on airway clearance, medicines to improve the function of the faulty CFTR protein and prevent complications, and surgery, if needed. Your healthcare team will likely include a cystic fibrosis specialist. This is a doctor who is familiar with the complex nature of cystic fibrosis. Your doctor may work with a medical team that specializes in cystic fibrosis, often at major medical centers.

Airway clearance techniques help loosen lung mucus so it can be cleared, reducing infections and improving breathing. The techniques include special ways of breathing and coughing, devices used by mouth and therapy vests that use vibrations to loosen mucus, and chest physical therapy. These techniques are often used along with medicines such as bronchodilators and mucus thinners. Medicines to treat cystic fibrosis include those used to maintain and improve lung function, fight infections, clear mucus and help breathing, and work on the faulty CFTR protein.

Your doctor may prescribe some of the following medicines to treat cystic fibrosis:. Surgery may be an option for people with advanced conditions. See Living With for more information. If you or your child has been diagnosed with cystic fibrosis, it is important that you continue your treatments, follow up with your doctors, and learn how to manage the condition.

Regular checkups with your doctor may be part of your follow-up and treatment. How often your regular checkups take place will depend on your age. Younger patients, and those who have just been diagnosed, will have more frequent visits. As adults, you may see your doctor less often, perhaps every three months and then once a year for an evaluation.

Return to Treatment to review possible treatment options for your cystic fibrosis. In addition to more frequent regular checkups, you may need to see your doctor for additional tests and evaluations, which may include the following:. Staying healthy is an extremely important part of cystic fibrosis care. Your medical team will work with you to develop a plan for lifestyle changes that can become part of your everyday life.

These include the following:. To help you prevent complications and reduce the risk of infections, your doctor may recommend the following:. Cystic fibrosis may have serious complications. Call your doctor if you believe you have any of the following:. Return to Signs, Symptoms, and Complications to review complications.

We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders, including cystic fibrosis. Learn about current and future NHLBI efforts to improve health through research and scientific discovery.

Learn about the following ways in which the NHLBI continues to translate current research and science into improved health for people who have cystic fibrosis. In support of our mission , we are committed to advancing cystic fibrosis research in part through the following ways:. We lead or sponsor many studies on cystic fibrosis. See if you or someone you know is eligible to participate in our clinical trials.

To learn more about clinical trials at the NIH Clinical Center or to talk to someone about a study that might fit your needs, call the Office of Patient Recruitment Learn more about participating in a clinical trial.

View all trials from ClinicalTrials. Visit Children and Clinical Studies to hear experts, parents, and children talk about their experiences with clinical research.

After reading our Cystic Fibrosis Health Topic, you may be interested in additional information found in the following resources. Cystic Fibrosis. Also known as CF.

Cystic fibrosis CF is a genetic condition that affects a protein in the body. Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues.

People who have cystic fibrosis make thick, sticky mucus that can build up and lead to blockages, damage, or infections in the affected organs. Inflammation also causes damage to organs such as the lungs and pancreas. Some people who have cystic fibrosis have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications. The most serious and common complications of cystic fibrosis are problems with the lungs, also known as pulmonary or respiratory problems, which may include serious lung infections.

People who have cystic fibrosis often also have problems maintaining good nutrition, because they have a hard time absorbing the nutrients from food. This is a problem that can delay growth.

Your doctor may recommend treatments to improve lung function and prevent or manage complications. Early treatment can improve your quality of life and help you live longer. Explore this Health Topic to learn more about cystic fibrosis, our role in research and clinical trials to improve health, and where to find more information. Causes - Cystic Fibrosis. What gene mutations cause cystic fibrosis?

Learn more about what the CFTR protein does in your body. Read more. Read less. How is cystic fibrosis inherited? Inheritance Pattern for Cystic Fibrosis. This image shows how CFTR genes are inherited. A person inherits two copies of the CFTR gene, one from each parent. If each parent has a normal CFTR gene and a mutated CFTR gene, each child has a 25 percent chance of inheriting two normal genes, a 50 percent chance of inheriting one normal gene and one gene with a mutation and being a cystic fibrosis carrier, and a 25 percent chance of inheriting two genes with mutations and having cystic fibrosis.

Look for. Treatment will discuss medicines, supplements, and lifestyle changes that your doctors may recommend if you are diagnosed with cystic fibrosis. Risk Factors - Cystic Fibrosis. Family history and genetics.

Race or ethnicity. Screening and Prevention - Cystic Fibrosis. Carrier screening to detect CFTR mutations. Review who is more likely to be a CF carrier in Risk Factors. Prenatal screening. Newborn screening. Prevention strategies. Diagnosis will discuss tests and procedures that your doctor may use to diagnose cystic fibrosis for you or your baby. Living With will discuss what your doctor may recommend to manage your cystic fibrosis to help it from getting worse or causing complications.

Research for Your Health will discuss how we are using current research and advancing research to treat and prevent cystic fibrosis. Participate in NHLBI Clinical Trials will discuss our open and enrolling clinical studies that are investigating treatment and prevention strategies for cystic fibrosis. Signs, Symptoms, and Complications - Cystic Fibrosis.

Signs and symptoms. Other signs and symptoms depend on the organs affected and may include: Blockage of the intestine in a baby soon after birth Clubbing of fingers and toes due to less oxygen getting to the hands and feet Fever, which may include night sweats Gastrointestinal symptoms, such as severe abdominal pain, chronic diarrhea, or constipation Jaundice , or yellow skin, for an abnormally long time after birth Low body mass index BMI or being underweight Muscle and joint pain Delayed growth or puberty Salty skin and saltier than normal sweat Sinus infections How cystic fibrosis affects the body.

Figure A shows the organs that may be affected by cystic fibrosis. People who have cystic fibrosis may have sinusitis or infections of the sinus. The lungs have a buildup of thick, sticky mucus, which may lead to infections and widened airways. The sweat glands in the skin produce sweat that is saltier than normal. In the liver, the biliary ducts may be blocked. This may cause liver damage and cirrhosis. The pancreas is also affected by cystic fibrosis, resulting in blocked pancreatic ducts.

This may lead to diabetes and poor absorption of nutrients in the intestines from lack of pancreatic enzymes. Reproductive organs may also be affected by cystic fibrosis, such as in problems with fertility and delayed puberty.

Figure B shows a cross-section of a normal airway and the thin layer of mucus lining the wall. Figure C shows an airway with cystic fibrosis. The widened airway is blocked by thick, sticky mucus that contains blood and bacteria. Possible complications of cystic fibrosis include: Allergic bronchopulmonary aspergillosis ABPA , which is an allergic reaction in the lungs to the fungus Aspergillus.

Bronchiectasis , a widening of the airways in the lungs caused by chronic inflammation or obstruction of the airways. This is a common complication of cystic fibrosis. Cancers of the digestive tract, including the esophagus, stomach, small bowel, large bowel, liver, and pancreas Collapsed lung, called pneumothorax , resulting in air in the space between your lung and chest wall Diabetes due to damage to the pancreas.

The pancreas is where insulin is made. Fertility problems Gastrointestinal complications, such as distal intestinal obstruction syndrome DIOS , in which your intestine becomes blocked by very thick intestinal contents. Another possible complication is rectal prolapse, in which part of the rectum sticks out through the anus.

Heart failure because of lung damage Hemoptysis Kidney problems due to diabetes and some antibiotics, or kidney stones Liver disease or failure caused by blockage of the bile ducts in the liver, which leads to bile damaging your liver. This may lead to cirrhosis and a need for a liver transplant. Lung infections that may come back or be difficult to treat Malnutrition because the pancreas may not make enough enzymes to help digest and absorb nutrients from food Mental health problems, such as depression and anxiety Muscle and bone complications, including low bone density and osteoporosis , joint pain and arthritis, and muscle pains Pancreatitis and low levels of pancreatic enzymes leading to nutritional deficiencies, including low levels of vitamins A, D, E, and K Pulmonary exacerbations , which are episodes of worsening cough, shortness of breath, and mucus production caused by airway inflammation and blockage from an increase in bacteria in your airways and lungs.

These episodes may also cause fatigue , loss of appetite, and weight loss. Salt loss syndrome, in which your body quickly loses salt, or sodium and chloride, causing electrolyte and other imbalances.

Urinary incontinence, or loss of bladder control. Diagnosis will discuss tests and procedures used to detect signs of cystic fibrosis and help rule out other conditions that may mimic cystic fibrosis. Treatment will discuss treatment-related complications or side effects. Diagnosis - Cystic Fibrosis. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens CBAVD , a condition in which the tubes that carry sperm the vas deferens are blocked by mucus and do not develop properly.

Women with cystic fibrosis may experience complications in pregnancy. Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2, to 3, white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17, African Americans and 1 in 31, Asian Americans. Mutations in the CFTR gene cause cystic fibrosis. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells.

Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.

Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes.

As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis. Other genetic and environmental factors likely influence the severity of the condition.

For example, mutations in genes other than CFTR might help explain why some people with cystic fibrosis are more severely affected than others. Most of these genetic changes have not been identified, however. This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Genetics Home Reference has merged with MedlinePlus. Learn more.

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. 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. 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. 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.