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Cystic fibrosis

From Wikipedia
cystic fibrosis
designated intractable/rare disease, class of disease, signs den symptoms
Health specialtymedical genetics, pediatrics, pulmonology Edit
Medical examinationphysical examination, Sweat test, screening Edit
Genetic associationAGTR2, SLC8A3, AHRR, CFTR Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/4531 Edit
ICD-9-CM277.0 Edit
ICPC 2 IDT99 Edit
NCI Thesaurus IDC2975 Edit

Cystic fibrosis (CF) be a genetic disorder wey be inherited insyd an autosomal recessive manner wey dey impair de normal clearance of mucus from de lungs, wich dey facilitate de colonization den infection of de lungs by bacteria, notably Pseudomonas aeruginosa[1][2] den Staphylococcus aureus.[3] CF be a rare[4][5] genetic disorder wey dey affect mostly de lungs, buh sanso de pancreas, liver, kidneys, den intestine.[6][7] De hallmark feature of CF be de accumulation of thick mucus insyd different organs. Long-term issues dey include difficulty breathing den coughing up mucus as a result of frequent lung infections.[6] Oda signs den symptoms fi include sinus infections, poor growth, fatty stool, clubbing of de fingers den toes, den infertility insyd most males.[6] Different people fi get different degrees of symptoms.[6]

Cystic fibrosis be inherited insyd an autosomal recessive manner.[6] E be caused by de presence of mutations insyd both copies (alleles) of de gene wey dey encode de cystic fibrosis transmembrane conductance regulator (CFTR) protein.[6] Those plus a single working copy be carriers den otherwise mostly healthy.[8] CFTR be involved insyd de production of sweat, digestive fluids, den mucus.[9] Wen de CFTR no be functional, secretions wey be usually thin instead cam be thick.[10] Na de condition be diagnosed by a sweat test den genetic testing.[6] De sweat test dey measure sodium concentration, as people plus cystic fibrosis abnormally get salty sweat, wich fi often be tasted by parents wey dey kiss dema kiddies. Screening of infants at birth dey take place insyd sam areas of de world.[6]

Der be no known cure for cystic fibrosis.[8] Lung infections be treated plus antibiotics wich fi be given intravenously, inhaled, anaa by mouth.[6] Sam times, dem dey use de antibiotic azithromycin long-term.[6] Inhaled hypertonic saline den salbutamol sanso be useful.[6] Lung transplantation fi be an option if lung function dey continue to worsen.[6] Pancreatic enzyme replacement den fat-soluble vitamin supplementation be important, especially insyd de young.[6] Airway clearance techniques such as chest physiotherapy fi get sam short-term benefit, buh long-term effects be unclear.[11] De average life expectancy be between 42 den 50 years insyd de developed world,[12][13] plus a median of 40.7 years,[14] although na improving treatments contribute to a more optimistic recent assessment of de median insyd de United States as 59 years.[15] Lung problems be responsible for death insyd 70% of people plus cystic fibrosis.[6]

CF be most common among people of Northern European ancestry, for whom e dey affect about 1 out of 3,000 newborns,[6] den among wich around 1 out of 25 people be a carrier.[8] E be least common insyd Africa den Asia.[6] Na dem first recognize am as a specific disease by Dorothy Andersen insyd 1938, plus descriptions wey dey fit de condition wey dey occur at least as far back as 1595.[7] De name "cystic fibrosis" dey refer to de characteristic fibrosis den cysts wey dey form within de pancreas.[7][16]

Video summary (script)

References

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  1. ↑ Diggle, Stephen P.; Whiteley, Marvin (2020). "Microbe Profile: Pseudomonas aeruginosa: opportunistic pathogen and lab rat". Microbiology. 166 (1): 30–33. doi:10.1099/mic.0.000860. ISSN 1465-2080. PMC 7273324. PMID 31597590.
  2. ↑ Vanderwoude, Jelly; Azimi, Sheyda; Read, Timothy D.; Diggle, Stephen P. (2024-01-03). "The role of hypermutation and collateral sensitivity in antimicrobial resistance diversity of Pseudomonas aeruginosa populations in cystic fibrosis lung infection". mBio. 15 (2): e03109–23. doi:10.1128/mbio.03109-23. PMC 10865868. PMID 38171021.
  3. ↑ 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.
  4. ↑ Sencen L. "Cystic Fibrosis". NORD (National Organization for Rare Disorders) (in American English). Retrieved 29 July 2022.
  5. ↑ "Orphanet: Cystic fibrosis". www.orpha.net (in English). Retrieved 29 July 2022.
  6. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 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.
  7. 1 2 3 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.
  8. 1 2 3 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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.
  12. ↑ 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.
  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. ↑ Cystic Fibrosis Foundation (September 2021). "Patient Registry 2020 Annual Data Report" (PDF). www.cff.org/. Retrieved 26 September 2024.
  16. ↑ 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.
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