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浙江大学学报（医学版）
浙江大学学报（医学版）  2020, Vol. 49 Issue (3): 406-409    DOI: 10.3785/j.issn.1008-9292.2020.04.13
病例报告     
UGT1A1基因复合杂合突变致吉尔伯特综合征一例
欧伟杰(),林苏,吴奕隆,朱月永*()
福建医科大学附属第一医院肝病中心, 福建 福州 350005
A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations
OU Weijie(),LIN Su,WU Yilong,ZHU Yueyong*()
Liver Research Center, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China
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摘要：

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。
关键词： 吉尔伯特病;  尿苷二磷酸;  葡萄糖醛酸基转移酶;  基因;  突变;  病例报告    
Abstract:

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.
Key words: Gilbert disease    Uridine diphosphate    Glucuronosyl transferase    Genes    Mutation    Case reports
收稿日期: 2019-10-14 出版日期: 2020-04-16
CLC:  R575.5  
基金资助: 国家科技重大专项(2017ZX10202201);医学科学研究基金晴众专项(YWJKJJHKYJJ-B17344);福建省卫生计生中青年骨干人才培养项目(2018-ZQN-54)
通讯作者: 朱月永     E-mail: ouweijie@fjmu.edu.cn;zhuyueyong@fjmu.edu.cn
作者简介: 欧伟杰(1995—), 男, 硕士研究生, 主要从事肝脏疾病研究; E-mail:ouweijie@fjmu.edu.cn; https://orcid.org/0000-0002-9038-7549
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引用本文:

欧伟杰,林苏,吴奕隆,朱月永. UGT1A1基因复合杂合突变致吉尔伯特综合征一例[J]. 浙江大学学报（医学版）, 2020, 49(3): 406-409.

OU Weijie,LIN Su,WU Yilong,ZHU Yueyong. A case of Gilbert syndrome caused by UGT1A1 gene compound heterozygous mutations. J Zhejiang Univ (Med Sci), 2020, 49(3): 406-409.

链接本文:

http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2020.04.13    或    http://www.zjujournals.com/med/CN/Y2020/V49/I3/406

图 1  一例UGT1A1基因复合杂合突变(UGT1A1*28;c.211G>A)患者的家系图
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