Gilbert's syndrome and molecular genetics basis
10.3760/cma.j.issn.1673-4408.2010.04.028
- VernacularTitle:Gilbert综合征及其分子遗传学基础
- Author:
Hua SONG
- Publication Type:Journal Article
- Keywords:
Gilbert's syndrome;
UDP-glucuronosyltransferase;
Gene mutation
- From:
International Journal of Pediatrics
2010;37(4):422-424
- CountryChina
- Language:Chinese
-
Abstract:
Gilbert's syndrome is a congenital,nonhemolytic,unconjugated hyperbilirubinemia.The intermittent mild jaundice is its clinical characteristic.The pathogenesis of the disease is the gene mutation of the isoenzyme which encoding the UDP-glucuronosyltransferase (UGT1A1).The gene mutation can affect glucuronic acidation of drugs.Therapeutic dose can cause unexpected toxicity.It is very important to detect the gene mutation of UGT1A1 for diagnosis,treatment and genetic counseling of Gilbert's syndrome.
