Gilbert's syndrome pathophysiology: Difference between revisions
Created page with "__NOTOC__ {{Gilbert's syndrome}} {{CMG}} Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing. ==Pat..." |
No edit summary |
||
| Line 14: | Line 14: | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Needs overview]] | |||
Revision as of 15:54, 19 November 2012
|
Gilbert's Syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Gilbert's syndrome pathophysiology On the Web |
|
American Roentgen Ray Society Images of Gilbert's syndrome pathophysiology |
|
Risk calculators and risk factors for Gilbert's syndrome pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
Pathogenesis
Gilbert's syndrome is caused by approximately 30%-50% reduced glucuronidation activity of the enzyme Uridine-diphosphate-glucuronosyltransferase isoform 1A1 (UGT1A1).[1][2] The gene which encodes UGT1A1 normally has a promoter region TATA box containing the allele A(TA6)TAA. Gilbert's syndrome is associated with homozygous A(TA7)TAA alleles.[3] The allele polymorphism is referred to as UGT1A1*28.
References
- ↑ Raijmakers MT, Jansen PL, Steegers EA, Peters WH (2000). "Association of human liver bilirubin UDP-glucuronyltransferase activity with a polymorphism in the promoter region of the UGT1A1 gene". Journal of Hepatology. 33 (3): 348–351. PMID 11019988.
- ↑ Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP; et al. (1995). "The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome". New England Journal of Medicine. 333 (18): 1171–5. PMID 7565971.
- ↑ Monaghan G, Ryan M, Seddon R, Hume R, Burchell B (1996). "Genetic variation in bilirubin UPD-glucuronosyltransferase gene promoter and Gilbert's syndrome". Lancet. 347 (9001): 578–81. PMID 8596320.