Crigler-Najjar综合征与UGT1A1基因突变的研究进展

doi:10.11852/zgetbjzz2019-1420

中国儿童保健杂志 ›› 2020, Vol. 28 ›› Issue (8): 887-889.DOI: 10.11852/zgetbjzz2019-1420

Crigler-Najjar综合征与UGT1A1基因突变的研究进展

闫悦¹ 综述, 李亚绒² (审校)

1 西安医学院, 陕西西安 710021;
2 西安市儿童医院, 陕西西安 710003

收稿日期:2019-11-20 修回日期:2020-01-18 发布日期:2020-08-10 出版日期:2020-08-10
通讯作者: 李亚绒, E-mail:lyr640101@163.com
作者简介:闫悦(1993-), 女, 陕西人, 在读硕士研究生, 主要研究方向为儿童感染性疾病及肝病
基金资助:
陕西省社会发展科技攻关项目(2016SF-135);西安市科技计划项目[2016052SF/YX08(3)]

Review on Crigler-Najjar syndrome and uridine diphosphate glucuronosyl transferase 1A1 gene mutation

YAN Yue, LI Ya-rong

1 Xi 'an Medical College, Xi'an, Shaanxi 710021, China;
2 Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China

Received:2019-11-20 Revised:2020-01-18 Online:2020-08-10 Published:2020-08-10
Contact: LI Ya-rong, E-mail:lyr640101@163.com

摘要/Abstract

摘要： Crigler-Najjar综合征(CNS)是先天性、非梗阻性、非溶血性、高未结合胆红素血症。其特征是肝细胞完全或接近完全缺乏尿嘧啶二磷酸葡萄糖醛基转移酶1A1(UGT1A1)。CNS的诊断主要是根据临床表现及实验室检查初步诊断, 之后可结合基因检测、胆汁成分分析、肝组织中UGT1A1酶活性测定等方法进行确诊。CNS及UGT1A1基因多态性在多种药物代谢及多种疾病的发病中有重要的意义, 即使其作用机制及具体影响没有一个定性及定量的评定, 但明确诊断后对于临床的指导意义很大。本文就CNS的临床诊治以及UGT1A1基因突变之间的关系进行综述。

关键词: 尿苷二磷酸葡萄糖醛酸转移酶1A1, 基因突变, Crigler-Najjar综合征

Abstract: Crigler-Najjar Syndrome (CNS) is congenital, non-obstructive, non-hemolytic, hyperunbound bilirubinemia, which is characterized by a completed or near-total deficiency of uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) in liver cells.The preliminary diagnosis of CNS is mainly based on clinical manifestations and laboratory examination.After that, the diagnosis can be made by combining genetic testing, analysis of bile components and determination of UGT1A1 activity in liver tissues.CNS and UGT1A1 gene polymorphisms are of great significance in the metabolism of multiple drugs and the pathogenesis of multiple diseases.Even if the mechanism and specific effects of the genes are not qualitatively and quantitatively evaluated, clear diagnosis is of great significance for clinical guidance.This review summarizes the clinical diagnosis and treatment of CNS and the relationship between UGT1A1 gene mutations and CNS.

Key words: uridine diphosphate glucuronic transferase 1A1, genetic mutations, Crigler-Najjar syndrome

中图分类号:

:R725.9

闫悦综述, 李亚绒. Crigler-Najjar综合征与UGT1A1基因突变的研究进展[J]. 中国儿童保健杂志, 2020, 28(8): 887-889.

YAN Yue, LI Ya-rong. Review on Crigler-Najjar syndrome and uridine diphosphate glucuronosyl transferase 1A1 gene mutation[J]. journal1, 2020, 28(8): 887-889.

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Crigler-Najjar综合征与UGT1A1基因突变的研究进展

Review on Crigler-Najjar syndrome and uridine diphosphate glucuronosyl transferase 1A1 gene mutation

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