Crigler-Najjar综合征Ⅱ型2例报道并文献复习  

Two case reports of Crigler-Najjar syndrome typeⅡand literature review

作　　者：杨景晖[1,2] 杨婷婷 李媛[1,2] YANG Jinghui;YANG Tingting;LI Yuan(Department of Pediatrics,the First People′s Hospital of Yunnan Province,Kunming,Yunnan 650032,China;The Affiliated Hospital of Kunming University of Science and Technology,Kunming,Yunnan 650032,China;College of medicine,Kunming University of Science and Technology,Kunming,Yunnan 650500,China)

机构地区：[1]云南省第一人民医院儿科,昆明650032 [2]昆明理工大学附属医院,昆明650032 [3]昆明理工大学医学院,昆明650500

出　　处：《重庆医学》2022年第5期760-763,共4页Chongqing medicine

基　　金：国家自然科学基金项目(81860281);云南省中青年学术和技术带头人后备人才项目(202105AC160030);云南省高层次卫生计生技术人才培养经费资助项目(D-2017054);云南省卫生内设研究机构项目(2018NS234);云南省临床医学中心开放项目(2020LCZXKF-XY10)。

摘　　要：目的确定2例黄疸患儿的病因及基因突变类型。方法根据黄疸诊疗思路确定2例患儿均为先天性高间接胆红素血症,分别采集2例患儿及其父母的外周血,针对尿甘二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)基因进行DNA测序。结果UGT1A1基因分析结果显示,患儿1存在c.1456T>G(Y486D)纯合突变,患儿2存在c.1456T>G(Y486D)、c.1268T>G p.(Leu423*)双重杂合突变,c.1268T>G为未报道的基因突变位点。结论患儿1、2均确诊为Crigler-Najjar综合征(CNS)Ⅱ型。Objective To determine the etiology and type of gene mutation in two children with jaundice.Methods According to the idea of jaundice diagnosis and treatment,the two cases were both diagnosed as congenital hyperindirect bilirubinemia.Peripheral blood samples of the two children and their parents be collected respectively,and DNA sequencing was performed on the urinary glyceride diphosphate glucuronidase(UGT1A1)gene.Results The analysis of UGT1A1 gene in the two children found that the first case had homozygous mutation of c.1456T>G(Y486D),while the second case had a complex heterozygous mutation of c.1456T>G(Y486D)and c.1268T>G,p.(Leu423*)which had not been reported.Conclusion The two children both were diagnosed with Crigler-Najjar syndrome(CNS)typeⅡ.

关 键 词：Crigler-Najjar综合征 UGT1A1基因 基因突变 黄疸 儿童 病例报道 

分 类 号：R725.8[医药卫生—儿科]