Cystic fibrosis classification: Difference between revisions
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{{CMG}}; {{AE}} {{SHH}} | {{CMG}}; {{AE}} {{SHH}} | ||
==Overview== | ==Overview== | ||
Cystic fibrosis may be classified according to CFTR protein function abnormality into 6 | Cystic fibrosis may be classified according to [[Cystic fibrosis transmembrane conductance regulator|CFTR protein]] function abnormality into 6 classes and includes lack of production (class 1), failure to reach the site of action due to misfolding (class 2), defects in gating (class 3), reduced [[ion]] conductance (class 4), abnormally low [[Ion channel|channel]] numbers (class 5), and decreased [[half-life]] (class 6). Cystic fibrosis classes 1,2 and 3 are the most commonly associated with [[pancreatic insufficiency]]. | ||
==Classification== | ==Classification== | ||
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><ref name="pmid27347364">{{cite journal |vauthors=Edmondson C, Davies JC |title=Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications |journal=Ther Adv Chronic Dis |volume=7 |issue=3 |pages=170–83 |year=2016 |pmid=27347364 |pmc=4907071 |doi=10.1177/2040622316641352 |url=}}</ref> | Cystic fibrosis may be classified according to [[Cystic fibrosis transmembrane conductance regulator|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><ref name="pmid27347364">{{cite journal |vauthors=Edmondson C, Davies JC |title=Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications |journal=Ther Adv Chronic Dis |volume=7 |issue=3 |pages=170–83 |year=2016 |pmid=27347364 |pmc=4907071 |doi=10.1177/2040622316641352 |url=}}</ref> | ||
{| | {| | ||
! colspan="3" |Cystic fibrosis classification according to CFTR protein function abnormality | ! colspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" + |Cystic fibrosis classification according to CFTR protein function abnormality | ||
|- | |- | ||
! | !style="background:#4479BA; color: #FFFFFF;" align="center" | Class | ||
! | !style="background:#4479BA; color: #FFFFFF;" align="center" | Type of abnormality | ||
! | !style="background:#4479BA; color: #FFFFFF;" align="center" | Features | ||
|- | |- | ||
|Class 1 | | style="background:#DCDCDC;" align="center" + |Class 1 | ||
|Total or partial lack of production of a functional CFTR | | style="background:#F5F5F5;" align="center" + |Total or partial lack of production of a functional [[Cystic fibrosis transmembrane conductance regulator|CFTR]] | ||
| rowspan="3" |Most common mutations ( | | rowspan="3" style="background:#F5F5F5;" + | | ||
*Most common [[Mutation|mutations]] (class 2 is the most common [[mutation]] worldwide) | |||
Associated with pancreatic insufficiency | *Associated with [[pancreatic insufficiency]] | ||
|- | |- | ||
|Class 2 | | style="background:#DCDCDC;" align="center" + |Class 2 | ||
|Failure to reach the site of action on the cell surface | | style="background:#F5F5F5;" align="center" + |Failure to reach the site of action on the cell surface | ||
(due to misfolding of the protein) | (due to misfolding of the [[protein]]) | ||
|- | |- | ||
|Class 3 | | style="background:#DCDCDC;" align="center" + |Class 3 | ||
|Defects in gating | | style="background:#F5F5F5;" align="center" + |Defects in gating | ||
(fail to open in response to intracellular signal) | (fail to open in response to [[intracellular]] signal) | ||
|- | |- | ||
|Class 4 | | style="background:#DCDCDC;" align="center" + |Class 4 | ||
|Reduced ion conductance | | style="background:#F5F5F5;" align="center" + |Reduced [[ion]] conductance | ||
| rowspan="3" | | | rowspan="3" style="background:#F5F5F5;" + | | ||
Typically do not have pancreatic insufficiency | *Rare [[Mutation|mutations]] | ||
*Typically do not have [[pancreatic insufficiency]] | |||
|- | |- | ||
|Class 5 | | style="background:#DCDCDC;" align="center" + |Class 5 | ||
|Abnormally low channel numbers | | style="background:#F5F5F5;" align="center" + |Abnormally low [[Ion channel|channel]] numbers | ||
(splicing mutations resulting in reduced amounts of CFTR protein) | ([[Splicing (genetics)|splicing]] [[Mutation|mutations]] resulting in reduced amounts of [[Cystic fibrosis transmembrane conductance regulator|CFTR protein]]) | ||
|- | |- | ||
|Class 6 | | style="background:#DCDCDC;" align="center" + |Class 6 | ||
|Decreased half-life | | style="background:#F5F5F5;" align="center" + |Decreased [[half-life]] | ||
|} | |} | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category: | [[Category:Medicine]] | ||
[[Category:Up-To-Date]] | |||
[[Category:Gastroenterology]] | |||
[[Category:Pediatrics]] | |||
[[Category:Pulmonology]] | |||
Latest revision as of 20:36, 29 March 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 classes and includes lack of production (class 1), failure to reach the site of action due to misfolding (class 2), defects in gating (class 3), reduced ion conductance (class 4), abnormally low channel numbers (class 5), and decreased half-life (class 6). Cystic fibrosis classes 1,2 and 3 are the most commonly associated with pancreatic insufficiency.
Classification
Cystic fibrosis may be classified according to CFTR mutation type:[1][2][3]
| 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 |
|
| Class 2 | Failure to reach the site of action on the cell surface
(due to misfolding of the protein) | |
| Class 3 | Defects in gating
(fail to open in response to intracellular signal) | |
| Class 4 | Reduced ion conductance |
|
| Class 5 | Abnormally low channel numbers
(splicing mutations resulting in reduced amounts of CFTR protein) | |
| 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.
- ↑ Edmondson C, Davies JC (2016). "Current and future treatment options for cystic fibrosis lung disease: latest evidence and clinical implications". Ther Adv Chronic Dis. 7 (3): 170–83. doi:10.1177/2040622316641352. PMC 4907071. PMID 27347364.