Cystic fibrosis classification: Difference between revisions
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|Class 1 | |Class 1 | ||
| | |Total or partial lack of production of a functional CFTR | ||
| rowspan="3" |Most common mutations (Class 2 is the most common mutation worldwide) | | rowspan="3" |Most common mutations (Class 2 is the most common mutation worldwide) | ||
Revision as of 17:07, 14 February 2018
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Cystic fibrosis Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Cystic fibrosis classification On the Web |
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American Roentgen Ray Society Images of Cystic fibrosis classification |
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Risk calculators and risk factors for Cystic fibrosis classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
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 | Total or partial lack of production of a functional CFTR | 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 (fail to open in response to intracellular signal) | |
| 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.