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  • Wrong UID 1052861

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); Mucoviscidosis (190905008)
Modes of inheritance:
 
CFTR (7q31.2); FCGR2A (1q23.3); TGFB1 (19q13.2)
 
Monarch Initiative: MONDO:0009061
OMIM®: 219700
Orphanet: ORPHA586
Authors:

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 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.  https://medlineplus.gov/genetics/condition/cystic-fibrosis

Clinical features

From HPO

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
Rosenfeld RM, Piccirillo JF, Chandrasekhar SS, Brook I, Ashok Kumar K, Kramper M, Orlandi RR, Palmer JN, Patel ZM, Peters A, Walsh SA, Corrigan MD
Otolaryngol Head Neck Surg 2015 Apr;152(2 Suppl):S1-S39. doi: 10.1177/0194599815572097. PMID: 25832968

Curated

DailyMed Drug Label, KALYDECO- ivacaftor tablet, 2022

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 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, 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

Polgreen PM, Comellas AP
Annu Rev Med 2022 Jan 27;73:563-574. doi: 10.1146/annurev-med-042120-020148. PMID: 35084992Free PMC Article
J Burton S, Hachem C, Abraham JM
Curr Gastroenterol Rep 2021 Mar 23;23(3):4. doi: 10.1007/s11894-021-00806-5. PMID: 33758994
Urquhart DS, Saynor ZL
Paediatr Respir Rev 2018 Jun;27:28-32. Epub 2018 May 18 doi: 10.1016/j.prrv.2018.01.004. PMID: 30158079
Radlović N
Srp Arh Celok Lek 2012 Mar-Apr;140(3-4):244-9. PMID: 22650116
ASAY LD
Calif Med 1965 Apr;102(4):292-300. PMID: 14288148Free PMC Article

Diagnosis

Grasemann H, Ratjen F
N Engl J Med 2023 Nov 2;389(18):1693-1707. doi: 10.1056/NEJMra2216474. PMID: 37913507
Myer H, Chupita S, Jnah A
Neonatal Netw 2023 Jan 1;42(1):23-30. doi: 10.1891/NN-2022-0007. PMID: 36631257
De Boeck K
Acta Paediatr 2020 May;109(5):893-899. Epub 2020 Jan 22 doi: 10.1111/apa.15155. PMID: 31899933
Singh VK, Schwarzenberg SJ
J Cyst Fibros 2017 Nov;16 Suppl 2:S70-S78. doi: 10.1016/j.jcf.2017.06.011. PMID: 28986019
David TJ
Arch Dis Child 1990 Jan;65(1):152-7. doi: 10.1136/adc.65.1.152. PMID: 2405786Free PMC Article

Therapy

Juhász MF, Varannai O, Németh D, Szakács Z, Kiss S, Izsák VD, Martonosi ÁR, Hegyi P, Párniczky A
J Cyst Fibros 2021 Sep;20(5):729-736. Epub 2020 Dec 19 doi: 10.1016/j.jcf.2020.12.008. PMID: 33349585
Davies JC
Paediatr Respir Rev 2019 Aug;31:25-27. Epub 2019 Mar 14 doi: 10.1016/j.prrv.2019.03.002. PMID: 31153791
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
Trapnell BC, Gorziglia M
Curr Opin Biotechnol 1994 Dec;5(6):617-25. doi: 10.1016/0958-1669(94)90084-1. PMID: 7765745

Prognosis

Myer H, Chupita S, Jnah A
Neonatal Netw 2023 Jan 1;42(1):23-30. doi: 10.1891/NN-2022-0007. PMID: 36631257
Villanueva G, Marceniuk G, Murphy MS, Walshaw M, Cosulich R; Guideline Committee
BMJ 2017 Oct 26;359:j4574. doi: 10.1136/bmj.j4574. PMID: 29074599
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
Mwandumba HC, Beeching NJ
Curr Opin Pulm Med 1999 May;5(3):151-6. doi: 10.1097/00063198-199905000-00005. PMID: 10228739

Clinical prediction guides

De Geyter J, Gallati-Kraemer S, Zhang H, De Geyter C
Sci Rep 2022 Feb 3;12(1):1866. doi: 10.1038/s41598-022-05925-1. PMID: 35115637Free PMC Article
Scott LK, Toner R
Lung 2017 Aug;195(4):397-401. Epub 2017 Jun 16 doi: 10.1007/s00408-017-0024-3. PMID: 28623538
Nash EF, Ohri CM, Stephenson AL, Durie PR
Eur J Gastroenterol Hepatol 2014 Feb;26(2):129-36. doi: 10.1097/MEG.0000000000000011. PMID: 24366450
Hall IP
Eur Respir Rev 2013 Mar 1;22(127):53-7. doi: 10.1183/09059180.00008312. PMID: 23457165Free 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

Recent systematic reviews

Green DM, Lahiri T, Raraigh KS, Ruiz F, Spano J, Antos N, Bonitz L, Christon L, Gregoire-Bottex M, Hale JE, Langfelder-Schwind E, La Parra Perez Á, Maguiness K, Massie J, McElroy-Barker E, McGarry ME, Mercier A, Munck A, Oliver KE, Self S, Singh K, Smiley M, Snodgrass S, Tluczek A, Tuley P, Lomas P, Wong E, Hempstead SE, Faro A, Ren CL
Pediatrics 2024 May 1;153(5) doi: 10.1542/peds.2023-064657. PMID: 38577740
Purkayastha D, Agtarap K, Wong K, Pereira O, Co J, Pakhale S, Kanji S
J Cyst Fibros 2023 May;22(3):478-483. Epub 2023 Jan 16 doi: 10.1016/j.jcf.2023.01.005. PMID: 36653239
Mielus M, Sands D, Woynarowski M
Nutrition 2022 Oct;102:111725. Epub 2022 May 6 doi: 10.1016/j.nut.2022.111725. PMID: 35816813
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
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

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
    • 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 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, 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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