A case of Gilbert syndrome caused by gene compound heterozygous mutations.
10.3785/j.issn.1008-9292.2020.04.01
- Author:
Weijie OU
1
;
Su LIN
1
;
Yilong WU
1
;
Yueyong ZHU
1
Author Information
1. Liver Research Center, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China.
- Publication Type:Case Reports
- MeSH:
Asian Continental Ancestry Group;
Bilirubin;
Gilbert Disease;
genetics;
Glucuronosyltransferase;
genetics;
Heterozygote;
Humans;
Mutation
- From:
Journal of Zhejiang University. Medical sciences
2020;49(3):406-409
- CountryChina
- Language:Chinese
-
Abstract:
A case of Gilbert syndrome (GS) with a heterozygous mutation in the gene is reported. The patient had no symptoms except for recurrent sclera icterus since childhood. Laboratory examinations revealed an elevated unconjugated bilirubin. Biliary obstruction, hemolysis and other diseases that might cause jaundice were excluded. *28 and c.211G>A heterozygous mutations in gene were found, which may be another type of mutation causing GS in Chinese population.
