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Cystic fibrosis

Description Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic di

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This guide cannot diagnose a condition or recommend a personal treatment plan. Discuss medical questions with a qualified professional.

Description

Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals.

Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways , leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs.

Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood glucose levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus often damages the pancreas, impairing its ability to produce insulin and digestive enzymes. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM).

Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. 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. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.

Frequency

Cystic fibrosis is a common genetic disease within the white population in the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 African Americans and 1 in 31,000 Asian Americans.

Causes

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.

Learn more about the gene associated with Cystic fibrosis

  • CFTR

Inheritance

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.

Other Names for This Condition

  • CF
  • Cystic fibrosis of pancreas
  • Fibrocystic disease of pancreas
  • Mucoviscidosis

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Cystic fibrosis

Genetic and Rare Diseases Information Center

  • Cystic fibrosis

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Clinical Trials

  • ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

  • CYSTIC FIBROSIS; CF

Scientific Articles on PubMed

  • PubMed

References

  • Accurso FJ. Update in cystic fibrosis 2005. Am J Respir Crit Care Med. 2006 May 1;173(9):944-7. doi: 10.1164/rccm.2601006. No abstract available. Citation on PubMed or Free article on PubMed Central
  • ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011 Apr;117(4):1028-1031. doi: 10.1097/AOG.0b013e31821922c2. Citation on PubMed
  • Deignan JL, Astbury C, Cutting GR, Del Gaudio D, Gregg AR, Grody WW, Monaghan KG, Richards S; ACMG Laboratory Quality Assurance Committee. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Aug;22(8):1288-1295. doi: 10.1038/s41436-020-0822-5. Epub 2020 May 14. Citation on PubMed
  • Gardner J. What you need to know about cystic fibrosis. Nursing. 2007 Jul;37(7):52-5. doi: 10.1097/01.NURSE.0000279437.30155.1e. Citation on PubMed
  • Gershman AJ, Mehta AC, Infeld M, Budev MM. Cystic fibrosis in adults: an overview for the internist. Cleve Clin J Med. 2006 Dec;73(12):1065-74. doi: 10.3949/ccjm.73.12.1065. Citation on PubMed
  • Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med. 2013 Jun;15(6):482-3. doi: 10.1038/gim.2013.47. Epub 2013 Apr 25. Citation on PubMed
  • Merlo CA, Boyle MP. Modifier genes in cystic fibrosis lung disease. J Lab Clin Med. 2003 Apr;141(4):237-41. doi: 10.1067/mlc.2003.29. Citation on PubMed
  • Ratjen F, Doring G. Cystic fibrosis. Lancet. 2003 Feb 22;361(9358):681-9. doi: 10.1016/S0140-6736(03)12567-6. Citation on PubMed
  • Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med. 2005 May 12;352(19):1992-2001. doi: 10.1056/NEJMra043184. No abstract available. Citation on PubMed
  • Savant A, Lyman B, Bojanowski C, Upadia J. Cystic Fibrosis. 2001 Mar 26 [updated 2024 Aug 8]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1250/ Citation on PubMed

The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.

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Related questions

01What Is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetic disorder, which means you get it from your parents at birth. It affects your lungs, pancreas, and other organs. CF changes the way chloride (salt) moves through the cells of your body. This causes the mucus (which should be thin and slippery) in various organs to become thick and sticky. Over time, this thick mucus builds up inside your airways, making it hard to breathe. The mucus traps germs and leads to infections and inflammation. It can also cause severe, long-term damage to the lungs and lead to respiratory failure (inability to breathe normally) and death. In the pancreas, the thick mucus caused by CF prevents the release of digestive enzymes when you eat. This leads to malnutrition and poor growth. CF can also cause liver disease, reproductive problems, and cystic fibrosis-related diabetes (CFRD). More than 40,000 people in the U.S. live with CF. Doctors diagnose about 1,000 new cases each year. Today, more than half of the CF population is aged 18 or older, and new treatments have expanded the life expectancy by decades.

Source: www.webmd.com ↗
02What is cystic fibrosis? A Mayo Clinic expert explains

Learn more from pulmonologist Sarah Chalmers, M.D. Cystic fibrosis (CF) is a condition passed down in families that causes damage to the lungs, digestive system and other organs in the body. CF affects the cells that make mucus, sweat and digestive juices. These fluids, also called secretions, are usually thin and slippery to protect the body's internal tubes and ducts and make them smooth pathways. But in people with CF, a changed gene causes the secretions to become sticky and thick. The secretions plug up pathways, especially in the lungs and pancreas. CF gets worse over time and needs daily care, but people with CF usually can attend school and work. They often have a better quality of life than people with CF had in past decades. Better screening and treatments mean that people with CF now may live into their mid- to late 50s or longer, and some are being diagnosed later in life.

Source: www.mayoclinic.org ↗
03What you can do

You might want to take a friend or family member with you to the appointment to help you remember information. Before your appointment, make a list of: Symptoms and when they started. Include anything that makes symptoms worse or better. All medicines, vitamins, herbs and supplements that you or your child take. Include the doses. Family history, such as whether anyone in your family has cystic fibrosis. Treatment you or your child have had for CF, if any. Include what the treatment was and if it helped. Any other medical conditions and their treatments. Questions to ask your healthcare professional. Questions to ask may include: What is likely causing these symptoms? What kinds of tests are needed? What treatment do you recommend? I or my child have other health conditions. How will cystic fibrosis affect them? Are there any limits needed? Feel free to ask other questions during your appointment.

Source: www.mayoclinic.org ↗
04Are there any risks to the test?

There is no known risk to a sweat test. The electrode may cause a tingling or tickling sensation from the electric current, but this is not painful.

Source: medlineplus.gov ↗
05What Are Other Unique Considerations to Be Aware of During Treatment?

The most common side effects of Alyftrek are cough, common cold, sinus infection , headache, sore throat , flu, feeling tired, skin rash, and changes in liver enzyme levels. If you experience a serious allergic reaction, such as difficulty breathing, swelling of the face, or severe dizziness, seek medical attention immediately. Liver problems, such as increased liver enzyme levels, may occur. Your doctor will monitor liver function with routine blood tests. Report any signs of yellowing skin or eyes ( jaundice ), dark urine (pee), or unexplained tiredness to your health care provider. Regular eye exams are also recommended since Alyftrek may cause cataracts , especially in younger people. Routine check-ups can help detect early changes in vision. These are not all of the possible side effects. Talk with your health care provider if you are having symptoms that bother you. Depending on the severity of your side effects, your health care provider may pause, reduce the dose, or permanently discontinue treatment with Alyftrek. In the U.S., you can also report side effects to the FDA at www.fda.gov/medwatch or by calling 800-FDA-1088.

Source: www.webmd.com ↗
Research context

Read sources and limitations before applying a claim.

Research and Statistics: Who Has Cystic Fibrosis?

About 40,000 people are living with cystic fibrosis in the United States, and there are approximately 105,000 people with CF worldwide. (3) More than 75 percent of people with the disease are diagnosed by age 2, and more than half of all people living with cystic fibrosis are 18 or older. CF occurs predominantly in white populations, at a rate of 1 in 2,500 births. Between 2 and 5 percent of white people are carriers of the CFTR gene variant but have no overt clinical signs of disease. The disease is less common among African Americans, occurring at the much lower frequency of approximately 1 out of 17,000 births. (15) CF gene variants are most prevalent in persons of northern and central European ancestries or of Ashkenazi Jewish descent. They are rarely found in Native Americans, Asians, or native Africans. (16) CF is equally common among men and women, but women patients fare significantly worse than male patients with the disease. The median survival age for female CF patients is about three years younger than it is for men, but the reasons for the poorer survival rates among women are not completely understood. (17)

Source: everydayhealth.com ↗
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