Cystic fibrosis classification: Difference between revisions
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==Overview== | ==Overview== | ||
Cystic fibrosis may be classified according to CFTR protein function abnormality into 6 groups: lack of production (Class 1), failure to reach the site of action due to misfolding (class 2), defects in gating (class 3), conductance (class 4), abnormally low channel numbers (class 5) and decreased half-life (class 6). | |||
==Classification== | ==Classification== | ||
Cystic fibrosis may be classified according to CFTR | Cystic fibrosis may be classified according to CFTR mutation type:<ref name="pmid23776378">{{cite journal |vauthors=Burney TJ, Davies JC |title=Gene therapy for the treatment of cystic fibrosis |journal=Appl Clin Genet |volume=5 |issue= |pages=29–36 |year=2012 |pmid=23776378 |pmc=3681190 |doi=10.2147/TACG.S8873 |url=}}</ref><ref name="pmid12606185">{{cite journal |vauthors=Ratjen F, Döring G |title=Cystic fibrosis |journal=Lancet |volume=361 |issue=9358 |pages=681–9 |year=2003 |pmid=12606185 |doi=10.1016/S0140-6736(03)12567-6 |url=}}</ref> | ||
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! colspan="3" |Cystic fibrosis classification according to CFTR protein function abnormality | ! colspan="3" |Cystic fibrosis classification according to CFTR protein function abnormality | ||
Revision as of 21:12, 9 February 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Cystic fibrosis may be classified according to CFTR protein function abnormality into 6 groups: lack of production (Class 1), failure to reach the site of action due to misfolding (class 2), defects in gating (class 3), conductance (class 4), abnormally low channel numbers (class 5) and decreased half-life (class 6).
Classification
Cystic fibrosis may be classified according to CFTR mutation type:[1][2]
| Cystic fibrosis classification according to CFTR protein function abnormality | ||
|---|---|---|
| Class | Type of abnormality | Features |
| Class 1 | Lack of production | Most common mutations (Class 2 is the most common mutation worldwide)
Associated with pancreatic insufficiency |
| Class 2 | Failure to reach the site of action due to misfolding | |
| Class 3 | Defects in gating | |
| Class 4 | Conductance | Rarer mutations
Typically do not have pancreatic insufficiency |
| Class 5 | Abnormally low channel numbers | |
| Class 6 | Decreased half-life | |
References
- ↑ Burney TJ, Davies JC (2012). "Gene therapy for the treatment of cystic fibrosis". Appl Clin Genet. 5: 29–36. doi:10.2147/TACG.S8873. PMC 3681190. PMID 23776378.
- ↑ Ratjen F, Döring G (2003). "Cystic fibrosis". Lancet. 361 (9358): 681–9. doi:10.1016/S0140-6736(03)12567-6. PMID 12606185.