摘要
Gilbert综合征(Gilbert syndrome,GS)及Crigler-Najjar综合征(Crigler-Najjar syndrome,CNS)均属于先天性非溶血性黄疸,是由于人体内尿甘二磷酸葡萄糖醛酸转移酶缺乏或其活性功能低下导致胆红素代谢功能障碍性疾病。尿甘二磷酸葡萄糖醛酸转移酶基因序列的多态性表现出个体间尿甘二磷酸葡萄糖醛酸转移酶的活性差异,这是GS及CNS发病的关键因素,但目前其发病机制尚未完全明确。本文就尿甘二磷酸葡萄糖醛酸转移酶基因多态性在GS及CNS发病机制中的研究进展作一综述。
Gilbert syndrome（GS）and Crigler-Najjar syndrome（CNS）belong to congenital nonhemolytic jaundice,caused by disturbance of metabolic function of bilirubin due to deficiency or decrease in the activity of human intracorporal enzyme bilirubin uridine 5＇-diphosphate-glucuronosyltransferase（UGT）.UGT1A1 genetic polymorphism of UGT varies between individuals of UGT,which is the critical factor of the paroxysm of GS and CNS.But at present,its pathogenesis is not fully clear.This paper reviews the current concept and new advances on UGT gene mutation in the pathogenesis of GS and CNS.
出处
《中华实用诊断与治疗杂志》
2015年第3期219-222,共4页
Journal of Chinese Practical Diagnosis and Therapy
