UGT1A1基因复合杂合突变致吉尔伯特综合征一例

A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations

一例吉尔伯特综合征患儿自幼反复出现巩膜黄染,无其他自觉症状;血清胆红素水平升高,以非结合胆红素为主;排除胆道梗阻、溶血等其他引起黄疸的因素;基因检测发现患儿尿苷二磷酸葡糖苷酸转移酶1A1(UGT1A1)基因存在UGT1A1*28和c.211G>A杂合突变。

A case of Gilbert syndrome(GS)with a heterozygous mutation in the UGT1A1 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.UGT1A1*28 and c.211G>A heterozygous mutations in UGT1A1 gene were found,which may be another type of mutation causing GS in Chinese population.