User:Mr. Ibrahem/Cystic fibrosis
| Cystic fibrosis | |
|---|---|
| Other names | Mucoviscidosis |
 | |
| Clubbing in the fingers of a person with cystic fibrosis | |
| Specialty | Medical genetics, pulmonology |
| Symptoms | Difficulty breathing, coughing up mucus, poor growth, fatty stool[1] |
| Usual onset | Symptoms recognizable ~6 month[2] |
| Duration | Life long[3] |
| Causes | Genetic (autosomal recessive)[1] |
| Diagnostic method | Sweat test, genetic testing[1] |
| Treatment | Antibiotics, pancreatic enzyme replacement, lung transplantation[1] |
| Prognosis | Life expectancy between 42 and 50 years (developed world)[4] |
| Frequency | 1 in 3,000 (Northern European)[1] |
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.[1][5] 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]
CF is inherited in an autosomal recessive manner.[1] It is caused by the presence of mutations in both copies of the gene for 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.[6] When the CFTR is not functional, secretions which are usually thin instead become thick.[7] The condition is diagnosed by a sweat test and genetic testing.[1] 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 have some short-term benefit, but long-term effects are unclear.[8] The average life expectancy is between 42 and 50 years in the developed world.[4][9] Lung problems are responsible for death in 80% of people with cystic fibrosis.[1]
CF is most common among people of Northern European ancestry and affects about one out of every 3,000 newborns.[1] About one in 25 people is a carrier.[3] It is least common in Africans and Asians.[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.[5] The name "cystic fibrosis" refers to the characteristic fibrosis and cysts that form within the pancreas.[5][10]
References[edit]
- ^ a b c d e f g h i j k l m n o p q r s t u O'Sullivan BP, Freedman SD (May 2009). "Cystic fibrosis". Lancet. 373 (9678): 1891–904. doi:10.1016/s0140-6736(09)60327-5. PMID 19403164.
- ^ Allen, Julian L.; Panitch, Howard B.; Rubenstein, Ronald C. (2016). Cystic Fibrosis. CRC Press. p. 92. ISBN 9781439801826. Archived from the original on 2017-09-08.
- ^ a b c d Massie J, Delatycki MB (December 2013). "Cystic fibrosis carrier screening". Paediatric Respiratory Reviews. 14 (4): 270–5. doi:10.1016/j.prrv.2012.12.002. PMID 23466339.
- ^ a b Ong T, Ramsey BW (September 2015). "Update in Cystic Fibrosis 2014". American Journal of Respiratory and Critical Care Medicine. 192 (6): 669–75. doi:10.1164/rccm.201504-0656UP. PMID 26371812.
- ^ 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 Sep 2017.
- ^ 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 Sep 2017.
- ^ 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. Archived from the original on 2021-08-28. Retrieved 2020-08-05.
- ^ Warnock L, Gates A (December 2015). "Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis". The Cochrane Database of Systematic Reviews (12): CD001401. doi:10.1002/14651858.CD001401.pub3. PMC 6768986. PMID 26688006.
- ^ Nazareth D, Walshaw M (October 2013). "Coming of age in cystic fibrosis - transition from paediatric to adult care". Clinical Medicine. 13 (5): 482–6. doi:10.7861/clinmedicine.13-5-482. PMC 4953800. PMID 24115706.
- ^ 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.