Gilbert综合征5例临床及遗传学分析

肝脏 ›› 2018, Vol. 23 ›› Issue (10): 888-891.

Gilbert综合征5例临床及遗传学分析

戚宇琪, 郭晓霞, 孙元培, 廉晓晓

030012 山西太原山西省中医药研究院

收稿日期:2017-12-29 出版日期:2018-10-31 发布日期:2020-05-21
通讯作者: 郭晓霞,Email:gxxsunny@foxmail.com

Received:2017-12-29 Online:2018-10-31 Published:2020-05-21

摘要/Abstract

摘要： 目的探讨Gilbert综合征的临床及遗传学特点,提高对该病基因分型的认识。方法回顾性分析5例以黄疸为主要表现的Gilbert综合征患者的一般资料、临床表现、实验室检查及基因检测结果。结果患者男性多于女性,临床症状轻微;均有皮肤巩膜黄染,乏力3例,肝区不适1例;诱发因素为劳累2例,感染3例;均为非结合胆红素升高,血清胆红素水平为17.1~102.6 μmol/L,其他肝功能指标均正常;饥饿试验阳性;均经基因检测到UGT1A1基因不同位点的突变。结论 Gilbert综合征是临床少见的先天性黄疸,以慢性、间歇性、非溶血性、非结合胆红素增高为特征,临床诊断缺乏特异性。目前认为UGT1A1基因检测是Gilbert综合征诊断的金标准。

戚宇琪, 郭晓霞, 孙元培, 廉晓晓. Gilbert综合征5例临床及遗传学分析[J]. 肝脏, 2018, 23(10): 888-891.

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