Rare Pulmonology News

Disease Profile

Cystic fibrosis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

All ages

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ICD-10

E84.0 E84.1 E84.8 E84.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Mucoviscidosis; CF

Categories

Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases;

Summary

Cystic fibrosis (CF) is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. Signs and symptoms may include salty-tasting skin; persistent coughing; frequent lung infections; wheezing or shortness of breath; poor growth; weight loss; greasy, bulky stools; difficulty with bowel movements; and in males, infertility. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. CF is caused by mutations in the CFTR gene and inheritance is autosomal recessive.[1][2][3] Treatment aims to relieve symptoms and usually includes respiratory therapies, inhaled medicines, pancreatic enzyme supplement, and nutritional supplements. Newer medications such as CFTR modulators have been approved for use in the United States. Ongoing research is focused on finding a cure for the disease.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Biliary cirrhosis
0002613
Decreased circulating antibody level
0004313
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Immunodeficiency
Decreased immune function
0002721
Malabsorption
Intestinal malabsorption
0002024
Pulmonary fibrosis
0002206
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
5%-29% of people have these symptoms
Dehydration
0001944
Hepatomegaly
Enlarged liver
0002240
Percent of people who have these symptoms is not available through HPO
Asthma
0002099
Autosomal recessive inheritance
0000007
Bronchiectasis
Permanent enlargement of the airways of the lungs
0002110
Chronic lung disease
0006528
Cor pulmonale
0001648
Elevated sweat chloride
0012236
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hypercalciuria
Elevated urine calcium levels
0002150
Male infertility
0003251
Meconium ileus
0004401
Rectal prolapse
Rectum protrudes through anus
0002035
Recurrent bronchopulmonary infections
0006538
Recurrent pneumonia
0006532

Cause

Mutations in a gene called cystic fibrosis transmembrane regulator (CFTR) cause CF. More than 900 mutations in this gene have been found. This gene provides the instructions for the CFTR protein. In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions. But in people with CF, this protein is defective and the cells do not release the chloride. The result is an improper salt balance in the cells which leads to thick, sticky mucus.[3] When mucus clogs the lungs, it can make breathing very difficult, and causes bacteria to get stuck in the airways, resulting in inflammation and infections. Over time, mucus buildup and infections can lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Mucus can also block the digestive tract and pancreas, leading to digestive problems.[1] 

Diagnosis

CFTR is the only gene known to be associated with cystic fibrosis. Reasons for genetic testing or screening of this gene may include:[4]

  • Diagnosis in individuals with symptoms of CF or with congenital absence of the vas deferens (CAVD)
  • Prenatal diagnosis of a fetus at risk
  • Carrier testing for at-risk relatives and their reproductive partners or for population screening
  • Preimplantation genetic diagnosis for pregnancies at high risk for CF

More information about genetic testing for cystic fibrosis is available on The National Human Genome Research Institute’s Web site and can be viewed by clicking here.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Newborn Screening

    • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
    • An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
    • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
    • National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
    • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

      Treatment

      FDA-Approved Treatments

      The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

      Organizations

      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Supporting this Disease

        Organizations Providing General Support

          Learn more

          These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

          Where to Start

          • The American College of Obstetricians and Gynecologists (ACOG) has information on Cystic Fibrosis: Prenatal Screening and Diagnosis.
          • The March of Dimes (MOD) has a fact sheet on cystic fibrosis.
          • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
          • Genetics Home Reference (GHR) contains information on Cystic fibrosis. This website is maintained by the National Library of Medicine.
          • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
          • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
          • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
          • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

            In-Depth Information

            • Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, and Sosnay PR. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation J Pediatr 2017;181 S:S4-15.
            • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
            • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
            • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
            • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
            • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystic fibrosis. Click on the link to view a sample search on this topic.

              Selected Full-Text Journal Articles

              • In 2002, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier Screening Working Group, as part of an ongoing effort to ensure that the cystic fibrosis carrier screening programs are current, initiated a review of the scientific literature and other available data and practices. The Working Group summarized its major recommendations with the supporting justification for these decisions in an article by Watson et al. titled "Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics." To access this policy statement, visit the link above.

                References

                1. Cystic fibrosis. Genetics Home Reference. 2012; https://ghr.nlm.nih.gov/condition/cystic-fibrosis.
                2. About Cystic Fibrosis. Cystic Fibrosis Foundation. https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/.
                3. Learning about Cystic Fibrosis. National Human Genome Research Institute. 2013; https://www.genome.gov/page.cfm?pageID=10001213.
                4. Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, and Cutting GR. CFTR-Related Disorders. GeneReviews. February 19 2008; https://www.ncbi.nlm.nih.gov/books/NBK1250/.
                5. CF Genetics. Cystic Fibrosis Foundation. https://www.cff.org/What-is-CF/CF-Genetics/. Accessed 4/12/2016.
                6. American College of Obstetricians and Gynecologists. Update on carrier screening for cystic fibrosis. Committee Opinion No. 486. ObstetGynecol. 2011; 117:1028-31. https://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Update-on-Carrier-Screening-for-Cystic-Fibrosis.
                7. Carrier testing for CF. Cystic Fibrosis Foundation. https://www.cff.org/What-is-CF/Testing/Carrier-Testing-for-CF/. Accessed 4/12/2016.

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