https://scholars.lib.ntu.edu.tw/handle/123456789/195659
Title: | Adult Progressive Intrahepatic Cholestasis Associated with Genetic Variations in Atp8b1 and Abcb11 | Authors: | HSU, YAO-CHUN CHEN, HUEY-LING WU, MU- ZON LIU, YU-JUNG LEE, PO-HUANG SHEU, JIN-CHUAN CHEN, CHIEN-HUNG CHEN, CHIEN- HUNG |
Issue Date: | 2009 | Journal Volume: | v.39 | Journal Issue: | n.6 | Start page/Pages: | 625-631 | Source: | HEPATOLOGY RESEARCH | Abstract: | Severe intrahepatic cholestasis with low serum gamma- glutamyltranspeptidase (gamma-GT) activity is exceptionally rare in adult patients, and its association with multi- genetic alterations of bile salt transporters has not been reported. We investigated a 25-year-old man presenting with a four-year history of jaundice. Laboratory and radiographic examinations revealed clinical pictures of progressive intrahepatic cholestasis with low gamma-GT. Serial liver histopathology demonstrated cirrhosis resulting from progressive persistent cholestatic injury. Genetic sequencing studies for the entire coding exons of ATP8B1 and ABCB11 uncovered a heterozygous missense mutation 1798 C-> T (R600W) in ATP8B1, and a homozygous nucleotide substitution 1331 T-> C (V444A) in ABCB11. In conclusion, this is a rare case of adult onset progressive intrahepatic cholestasis with low gamma-GT associated with heterozygous ATP8B1 mutation and homozygous ABCB11 polymorphism. Further studies are necessary to investigate the impact of heterozygous R600W mutation and whether other cholestatic disorders are multi-genetic. |
URI: | http://ntur.lib.ntu.edu.tw//handle/246246/188519 |
Appears in Collections: | 醫學系 |
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