Cystic fibrosis

Cystic fibrosis
Other namesMucoviscidosis
SpecialtyMedical genetics, pulmonology
SymptomsDifficulty breathing, coughing up mucus, poor growth, fatty stool[1]
Usual onsetSymptoms recognizable ~6 month[2]
DurationLong term[3]
CausesGenetic (autosomal recessive)[1]
Risk factorsGenetic
Diagnostic methodSweat test, genetic testing[1]
TreatmentPhysiotherapy, antibiotics, pancreatic enzyme replacement, cystic fibrosis transmembrane conductance regulator modulators, lung transplantation[4]
PrognosisLife expectancy between 42 and 50 years (developed world)[5]
Frequency1 out of 3,000 (Northern European)[1]
Deaths40 percent of the population are affected

Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably Staphylococcus aureus.[6] CF is a rare[7][8] genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.[1][9] The hallmark feature of CF is the accumulation of thick mucus in different organs. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections.[1] Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males.[1] Different people may have different degrees of symptoms.[1]

Cystic fibrosis is inherited in an autosomal recessive manner.[1] It is caused by the presence of mutations in both copies (alleles) of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein.[1] Those with a single working copy are carriers and otherwise mostly healthy.[3] CFTR is involved in the production of sweat, digestive fluids, and mucus.[10] When the CFTR is not functional, secretions that are usually thin instead become thick.[11] The condition is diagnosed by a sweat test and genetic testing.[1] The sweat test measures sodium concentration, as people with cystic fibrosis have abnormally salty sweat, which can often be tasted by parents kissing their children. Screening of infants at birth takes place in some areas of the world.[1]

There is no known cure for cystic fibrosis.[3] Lung infections are treated with antibiotics which may be given intravenously, inhaled, or by mouth.[1] Sometimes, the antibiotic azithromycin is used long-term.[1] Inhaled hypertonic saline and salbutamol may also be useful.[1] Lung transplantation may be an option if lung function continues to worsen.[1] Pancreatic enzyme replacement and fat-soluble vitamin supplementation are important, especially in the young.[1] Airway clearance techniques such as chest physiotherapy may have some short-term benefit, but long-term effects are unclear.[12] The average life expectancy is between 42 and 50 years in the developed world,[5][13] with a median of 40.7 years.[14] Lung problems are responsible for death in 70% of people with cystic fibrosis.[1]

CF is most common among people of Northern European ancestry, for whom it affects about 1 out of 3,000 newborns,[1] and among which around 1 out of 25 people is a carrier.[3] It is least common in Africans and Asians, though it does occur in all races.[1] It was first recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595.[9] The name "cystic fibrosis" refers to the characteristic fibrosis and cysts that form within the pancreas.[9][15]

Video summary (script)
  1. ^ a b c d e f g h i j k l m n o p q r s t O'Sullivan BP, Freedman SD (May 2009). "Cystic fibrosis". Lancet. 373 (9678): 1891–1904. doi:10.1016/s0140-6736(09)60327-5. PMID 19403164. S2CID 46011502.
  2. ^ Allen JL, Panitch HB, Rubenstein RC (2016). Cystic Fibrosis. CRC Press. p. 92. ISBN 9781439801826. Archived from the original on 8 September 2017.
  3. ^ a b c d Massie J, Delatycki MB (December 2013). "Cystic fibrosis carrier screening". Paediatric Respiratory Reviews. 14 (4): 270–275. doi:10.1016/j.prrv.2012.12.002. PMID 23466339.
  4. ^ Shteinberg M, Haq IJ, Polineni D, Davies JC (June 2021). "Cystic fibrosis". Lancet. 397 (10290): 2195–2211. doi:10.1016/s0140-6736(20)32542-3. PMID 34090606. S2CID 235327978.
  5. ^ a b Ong T, Ramsey BW (September 2015). "Update in Cystic Fibrosis 2014". American Journal of Respiratory and Critical Care Medicine. 192 (6): 669–675. doi:10.1164/rccm.201504-0656UP. PMID 26371812.
  6. ^ Xu X, Zhang X, Zhang G, Abbasi Tadi D (March 2024). "Prevalence of antibiotic resistance of Staphylococcus aureus in cystic fibrosis infection: a systematic review and meta-analysis". Journal of Global Antimicrobial Resistance. 36: 419–425. doi:10.1016/j.jgar.2023.05.006. PMID 37211214.
  7. ^ Sencen L. "Cystic Fibrosis". NORD (National Organization for Rare Disorders). Retrieved 29 July 2022.
  8. ^ "Orphanet: Cystic fibrosis". www.orpha.net. Retrieved 29 July 2022.
  9. ^ a b c Hodson M, Geddes D, Bush A, eds. (2012). Cystic Fibrosis (3rd ed.). London: Hodder Arnold. p. 3. ISBN 978-1-4441-1369-3. Archived from the original on 8 September 2017.
  10. ^ Buckingham L (2012). Molecular Diagnostics: Fundamentals, Methods and Clinical Applications (2nd ed.). Philadelphia: F.A. Davis Co. p. 351. ISBN 978-0-8036-2975-2. Archived from the original on 8 September 2017.
  11. ^ Yankaskas JR, Marshall BC, Sufian B, Simon RH, Rodman D (January 2004). "Cystic fibrosis adult care: consensus conference report". Chest. 125 (1 Suppl): 1S–39S. CiteSeerX 10.1.1.562.1904. doi:10.1378/chest.125.1_suppl.1S. PMID 14734689.
  12. ^ Warnock L, Gates A (April 2023). "Airway clearance techniques compared to no airway clearance techniques for cystic fibrosis". The Cochrane Database of Systematic Reviews. 2023 (4): CD001401. doi:10.1002/14651858.CD001401.pub4. PMC 10091803. PMID 37042825.
  13. ^ Nazareth D, Walshaw M (October 2013). "Coming of age in cystic fibrosis - transition from paediatric to adult care". Clinical Medicine. 13 (5): 482–486. doi:10.7861/clinmedicine.13-5-482. PMC 4953800. PMID 24115706.
  14. ^ Agrawal A, Agarwal A, Mehta D, Sikachi RR, Du D, Wang J (August 2017). "Nationwide trends of hospitalizations for cystic fibrosis in the United States from 2003 to 2013". Intractable & Rare Diseases Research. 6 (3): 191–198. doi:10.5582/irdr.2017.01043. PMC 5608929. PMID 28944141.
  15. ^ Andersen DH (1938). "Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study". Am. J. Dis. Child. 56 (2): 344–99. doi:10.1001/archpedi.1938.01980140114013.