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Cystic fibrosis(CF)

MedGen UID:
41393
Concept ID:
C0010674
Disease or Syndrome
Synonyms: CF; Mucoviscidosis
SNOMED CT: Cystic fibrosis (190905008); CF - Cystic fibrosis (190905008); Fibrocystic disease (190905008); CF (190905008); Mucoviscidosis (190905008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): CFTR (7q31.2); FCGR2A (1q23.3); TGFB1 (19q13.2)
 
Monarch Initiative: MONDO:0009061
OMIM®: 219700
Orphanet: ORPHA586

Disease characteristics

Excerpted from the GeneReview: Cystic Fibrosis
Cystic fibrosis (CF) is a multisystem disease affecting epithelia of the respiratory tract, exocrine pancreas, intestine, hepatobiliary system, and exocrine sweat glands. Morbidities include recurrent sinusitis and bronchitis, progressive obstructive pulmonary disease with bronchiectasis, exocrine pancreatic deficiency and malnutrition, pancreatitis, gastrointestinal manifestations (meconium ileus, rectal prolapse, distal intestinal obstructive syndrome), liver disease, diabetes, male infertility due to hypoplasia or aplasia of the vas deferens, and reduced fertility or infertility in some women. Pulmonary disease is the major cause of morbidity and mortality in CF. [from GeneReviews]
Authors:
Adrienne Savant  |  Benjamin Lyman  |  Christine Bojanowski, et. al.   view full author information

Additional descriptions

From OMIM
Cystic fibrosis (CF) is classically described as a triad of chronic obstructive pulmonary disease, exocrine pancreatic insufficiency, and elevation of sodium and chloride concentration in sweat. Almost all males with CF are infertile due to congenital bilateral absence of the vas deferens. The disorder is associated with decreased longevity (summary by Cutting, 2002). For discussion of a phenotype consisting of bronchiectasis with or without elevated sweat chloride caused by mutation in the genes encoding the 3 subunits of the epithelial sodium channel, see BESC1 (211400).  http://www.omim.org/entry/219700
From MedlinePlus Genetics
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 sugar 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.  https://medlineplus.gov/genetics/condition/cystic-fibrosis

Clinical features

From HPO
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Finding
Abnormally high level of calcium in the urine.
Male infertility
MedGen UID:
5796
Concept ID:
C0021364
Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Clubbing of fingers
MedGen UID:
3129
Concept ID:
C0009080
Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Cor pulmonale
MedGen UID:
18765
Concept ID:
C0034072
Disease or Syndrome
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hepatosplenomegaly
MedGen UID:
9225
Concept ID:
C0019214
Sign or Symptom
Simultaneous enlargement of the liver and spleen.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Biliary cirrhosis
MedGen UID:
44182
Concept ID:
C0023892
Disease or Syndrome
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
Rectal prolapse
MedGen UID:
11151
Concept ID:
C0034888
Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Exocrine pancreatic insufficiency
MedGen UID:
75647
Concept ID:
C0267963
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Ileus
MedGen UID:
219874
Concept ID:
C1258215
Disease or Syndrome
Acute obstruction of the intestines preventing passage of the contents of the intestines.
Meconium ileus
MedGen UID:
473705
Concept ID:
C2939175
Disease or Syndrome
Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by Romi et al., 2012). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; 219700), and meconium ileus in the absence of CF is a rare phenomenon (summary by Tal et al., 1985).
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Hemoptysis
MedGen UID:
5502
Concept ID:
C0019079
Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Chronic lung disease
MedGen UID:
196656
Concept ID:
C0746102
Disease or Syndrome
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
Reduced forced vital capacity
MedGen UID:
337630
Concept ID:
C1846678
Finding
An abnormal reduction in the amount of air a person can expel following maximal inspiration.
Recurrent bronchopulmonary infections
MedGen UID:
488990
Concept ID:
C2169795
Finding
An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
Reduced forced expiratory volume in one second
MedGen UID:
1687063
Concept ID:
C5139283
Finding
An abnormal reduction in the amount of air a person can forcefully expel in one second.
Decreased forced expiratory flow 25-75%
MedGen UID:
1686759
Concept ID:
C5139292
Finding
A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Pancreatitis
MedGen UID:
14586
Concept ID:
C0030305
Disease or Syndrome
The presence of inflammation in the pancreas.
Chronic sinusitis
MedGen UID:
101751
Concept ID:
C0149516
Disease or Syndrome
A chronic form of sinusitis.
Dehydration
MedGen UID:
8273
Concept ID:
C0011175
Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Elevated sweat chloride
MedGen UID:
347278
Concept ID:
C1856646
Finding
An increased concentration of chloride in the sweat.
Nasal polyposis
MedGen UID:
6524
Concept ID:
C0027430
Anatomical Abnormality
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.

Professional guidelines

PubMed

Lange C, Böttger EC, Cambau E, Griffith DE, Guglielmetti L, van Ingen J, Knight SL, Marras TK, Olivier KN, Santin M, Stout JE, Tortoli E, Wagner D, Winthrop K, Daley CL; expert panel group for management recommendations in non-tuberculous mycobacterial pulmonary diseases
Lancet Infect Dis 2022 Jul;22(7):e178-e190. Epub 2022 Jan 25 doi: 10.1016/S1473-3099(21)00586-7. PMID: 35090639
Daley CL, Iaccarino JM, Lange C, Cambau E, Wallace RJ Jr, Andrejak C, Böttger EC, Brozek J, Griffith DE, Guglielmetti L, Huitt GA, Knight SL, Leitman P, Marras TK, Olivier KN, Santin M, Stout JE, Tortoli E, van Ingen J, Wagner D, Winthrop KL
Eur Respir J 2020 Jul;56(1) Epub 2020 Jul 7 doi: 10.1183/13993003.00535-2020. PMID: 32636299Free PMC Article
Chang AB, Bush A, Grimwood K
Lancet 2018 Sep 8;392(10150):866-879. doi: 10.1016/S0140-6736(18)31554-X. PMID: 30215382

Curated

DailyMed Drug Label, KALYDECO- ivacaftor tablet, 2022

Policy: Recommendations for Screening for Specific Disorders

American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, CFTR Mutations except R117H, Cystic Fibrosis (CF), 2012

American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, Cystic Fibrosis R117H, 2012

American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, No Mutations Detected by Carrier Screening, Cystic Fibrosis (CF), 2012

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated IRT +/- DNA, Cystic Fibrosis, 2012

American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

American College of Medical Genetics and Genomics, Algorithm, Immunoreactive Trypsinogen (IRT Elevated), 2006

Suggested Reading

PubMed

Wainwright CE, Elborn JS, Ramsey BW, Marigowda G, Huang X, Cipolli M, Colombo C, Davies JC, De Boeck K, Flume PA, Konstan MW, McColley SA, McCoy K, McKone EF, Munck A, Ratjen F, Rowe SM, Waltz D, Boyle MP; TRAFFIC Study Group; TRANSPORT Study Group
N Engl J Med 2015 Jul 16;373(3):220-31. Epub 2015 May 17 doi: 10.1056/NEJMoa1409547. PMID: 25981758Free PMC Article
Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordoñez CL, Campbell PW, Ashlock MA, Ramsey BW
N Engl J Med 2010 Nov 18;363(21):1991-2003. doi: 10.1056/NEJMoa0909825. PMID: 21083385Free PMC Article

Recent clinical studies

Etiology

Dixon E, Dick K, Ollosson S, Jones D, Mattock H, Bentley S, Saunders C, Matthews J, Dobra B, King J, Edmondson C, Davies JC
Paediatr Respir Rev 2022 Jun;42:23-28. Epub 2021 May 19 doi: 10.1016/j.prrv.2021.05.002. PMID: 34215541
Lord R, Jones AM, Horsley A
Cochrane Database Syst Rev 2020 Apr 2;4(4):CD009529. doi: 10.1002/14651858.CD009529.pub4. PMID: 32239690Free PMC Article
Radtke T, Nevitt SJ, Hebestreit H, Kriemler S
Cochrane Database Syst Rev 2017 Nov 1;11(11):CD002768. doi: 10.1002/14651858.CD002768.pub4. PMID: 29090734Free PMC Article
Ooi CY, Durie PR
Nat Rev Gastroenterol Hepatol 2016 Mar;13(3):175-85. Epub 2016 Jan 21 doi: 10.1038/nrgastro.2015.226. PMID: 26790364
Radlović N
Srp Arh Celok Lek 2012 Mar-Apr;140(3-4):244-9. PMID: 22650116

Diagnosis

Endres TM, Konstan MW
JAMA 2022 Jan 11;327(2):191. doi: 10.1001/jama.2021.23280. PMID: 35015036
De Boeck K
Acta Paediatr 2020 May;109(5):893-899. Epub 2020 Jan 22 doi: 10.1111/apa.15155. PMID: 31899933
Turcios NL
Respir Care 2020 Feb;65(2):233-251. Epub 2019 Nov 26 doi: 10.4187/respcare.06697. PMID: 31772069
Klimova B, Kuca K, Novotny M, Maresova P
Med Chem 2017;13(2):102-109. doi: 10.2174/1573406412666160608113235. PMID: 27292156
Scott A
Radiol Technol 2013 May-Jun;84(5):493-513; quiz 514-8. PMID: 23687244

Therapy

Hilton N, Solis-Moya A
Cochrane Database Syst Rev 2018 May 24;5(5):CD006112. doi: 10.1002/14651858.CD006112.pub4. PMID: 29797578Free PMC Article
Radtke T, Nevitt SJ, Hebestreit H, Kriemler S
Cochrane Database Syst Rev 2017 Nov 1;11(11):CD002768. doi: 10.1002/14651858.CD002768.pub4. PMID: 29090734Free PMC Article
Dwan K, Phillipi CA, Steiner RD, Basel D
Cochrane Database Syst Rev 2016 Oct 19;10(10):CD005088. doi: 10.1002/14651858.CD005088.pub4. PMID: 27760454Free PMC Article
Chesdachai S, Tangpricha V
J Steroid Biochem Mol Biol 2016 Nov;164:36-39. Epub 2015 Sep 10 doi: 10.1016/j.jsbmb.2015.09.013. PMID: 26365559Free PMC Article
Goldbeck L, Fidika A, Herle M, Quittner AL
Cochrane Database Syst Rev 2014 Jun 18;2014(6):CD003148. doi: 10.1002/14651858.CD003148.pub3. PMID: 24941199Free PMC Article

Prognosis

Corriveau S, Sykes J, Stephenson AL
Curr Opin Pulm Med 2018 Nov;24(6):574-578. doi: 10.1097/MCP.0000000000000520. PMID: 30281026
Sanders DB, Fink AK
Pediatr Clin North Am 2016 Aug;63(4):567-84. doi: 10.1016/j.pcl.2016.04.001. PMID: 27469176Free PMC Article
McArdle JR, Whittaker LA
Semin Respir Crit Care Med 2009 Oct;30(5):503. Epub 2009 Sep 16 doi: 10.1055/s-0029-1238908. PMID: 19760537
Bobadilla JL, Macek M Jr, Fine JP, Farrell PM
Hum Mutat 2002 Jun;19(6):575-606. doi: 10.1002/humu.10041. PMID: 12007216
Shapiro BJ
Curr Opin Pulm Med 1999 Nov;5(6):363-4. doi: 10.1097/00063198-199911000-00007. PMID: 10570737

Clinical prediction guides

Huang L, Lai HJ, Antos N, Rock MJ, Asfour F, Howenstine M, Gaffin JM, Farrell PM
Pediatr Pulmonol 2022 Oct;57(10):2363-2373. Epub 2022 Jun 25 doi: 10.1002/ppul.26040. PMID: 35712759Free PMC Article
Hadjiliadis D, Khoruts A, Zauber AG, Hempstead SE, Maisonneuve P, Lowenfels AB; Cystic Fibrosis Colorectal Cancer Screening Task Force
Gastroenterology 2018 Feb;154(3):736-745.e14. Epub 2017 Dec 29 doi: 10.1053/j.gastro.2017.12.012. PMID: 29289528Free PMC Article
Singh VK, Haupt ME, Geller DE, Hall JA, Quintana Diez PM
World J Gastroenterol 2017 Oct 21;23(39):7059-7076. doi: 10.3748/wjg.v23.i39.7059. PMID: 29093615Free PMC Article
Neves PC, Guerra M, Ponce P, Miranda J, Vouga L
Interact Cardiovasc Thorac Surg 2011 Dec;13(6):619-25. Epub 2011 Oct 6 doi: 10.1510/icvts.2011.284208. PMID: 21979982
Tilley S, Volmer J, Picher M
Subcell Biochem 2011;55:235-76. doi: 10.1007/978-94-007-1217-1_9. PMID: 21560050Free PMC Article

Recent systematic reviews

Wilson LM, Morrison L, Robinson KA
Cochrane Database Syst Rev 2019 Jan 24;1(1):CD011231. doi: 10.1002/14651858.CD011231.pub2. PMID: 30676656Free PMC Article
Hilton N, Solis-Moya A
Cochrane Database Syst Rev 2018 May 24;5(5):CD006112. doi: 10.1002/14651858.CD006112.pub4. PMID: 29797578Free PMC Article
Radtke T, Nevitt SJ, Hebestreit H, Kriemler S
Cochrane Database Syst Rev 2017 Nov 1;11(11):CD002768. doi: 10.1002/14651858.CD002768.pub4. PMID: 29090734Free PMC Article
McCormack P, Burnham P, Southern KW
Cochrane Database Syst Rev 2017 Oct 6;10(10):CD009595. doi: 10.1002/14651858.CD009595.pub2. PMID: 28984368Free PMC Article
Magis-Escurra C, Reijers MH
BMJ Clin Evid 2015 Feb 25;2015 PMID: 25715965Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • DailyMed Drug Label, 2022
      DailyMed Drug Label, KALYDECO- ivacaftor tablet, 2022
    • HGS Australasia, 2019
      Policy: Recommendations for Screening for Specific Disorders
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, CFTR Mutations except R117H, Cystic Fibrosis (CF), 2012
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, Cystic Fibrosis R117H, 2012
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, No Mutations Detected by Carrier Screening, Cystic Fibrosis (CF), 2012
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated IRT +/- DNA, Cystic Fibrosis, 2012
    • ACMG ACT, 2011
      American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
    • ACMG Algorithm, 2006
      American College of Medical Genetics and Genomics, Algorithm, Immunoreactive Trypsinogen (IRT Elevated), 2006

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