Cystic fibrosis causes: Difference between revisions
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==Overview== | ==Overview== | ||
Cystic fibrosis is caused by mutations in the CFTR gene. The genetic [[Mutation|mutations]] result in defective transport of [[chloride]], and secondarily [[sodium]], by [[Epithelium|epithelial cells]] and eventually abnormal viscous mucoid secretions mostly in lungs and [[Gastrointestinal tract|GI tract]]. | Cystic fibrosis is caused by [[Mutation|mutations]] in the [[CFTR (gene)|CFTR gene]]. The genetic [[Mutation|mutations]] result in defective transport of [[chloride]], and secondarily [[sodium]], by [[Epithelium|epithelial cells]] and eventually abnormal viscous mucoid secretions mostly in [[Lung|lungs]] and [[Gastrointestinal tract|GI tract]]. | ||
==Causes== | ==Causes== | ||
===Genetic Cause=== | ===Genetic Cause=== | ||
*Cystic fibrosis is caused by mutations in the CFTR gene. The genetic [[Mutation|mutations]] result in defective transport of [[chloride]], and secondarily [[sodium]], by [[Epithelium|epithelial cells]] and eventually abnormal viscous mucoid secretions mostly in lungs and [[Gastrointestinal tract|GI tract]]. | *Cystic fibrosis is caused by [[Mutation|mutations]] in the [[CFTR (gene)|CFTR gene]]. The genetic [[Mutation|mutations]] result in defective transport of [[chloride]], and secondarily [[sodium]], by [[Epithelium|epithelial cells]] and eventually abnormal viscous [[Mucus|mucoid]] secretions mostly in [[Lung|lungs]] and [[Gastrointestinal tract|GI tract]].<ref name="pmid22688363">{{cite journal |vauthors=Hull J |title=Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment |journal=J R Soc Med |volume=105 Suppl 2 |issue= |pages=S2–8 |date=June 2012 |pmid=22688363 |pmc=3372304 |doi=10.1258/jrsm.2012.12s001 |url=}}</ref> | ||
==References== | ==References== | ||
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[[Category:Pulmonology]] |
Latest revision as of 20:12, 9 March 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
Cystic fibrosis is caused by mutations in the CFTR gene. The genetic mutations result in defective transport of chloride, and secondarily sodium, by epithelial cells and eventually abnormal viscous mucoid secretions mostly in lungs and GI tract.
Causes
Genetic Cause
- Cystic fibrosis is caused by mutations in the CFTR gene. The genetic mutations result in defective transport of chloride, and secondarily sodium, by epithelial cells and eventually abnormal viscous mucoid secretions mostly in lungs and GI tract.[1]
References
- ↑ Hull J (June 2012). "Cystic fibrosis transmembrane conductance regulator dysfunction and its treatment". J R Soc Med. 105 Suppl 2: S2–8. doi:10.1258/jrsm.2012.12s001. PMC 3372304. PMID 22688363.