婴儿期Dubin-Johnson综合征:1例报道并文献复习  

Infant Dubin-Johnson syndrome:one case report and literature review

作　　者：蒯钰 朱会 唐笠 黄宇 朱道娟 朱书瑶 罗泽民[1] 陈艾 熊复[1] KUAI Yu;ZHU Hui;TANG Li;HUANG Yu;ZHU Daojuan;ZHU Shuyao;LUO Zemin;CHEN Ai;XIONG Fu(Department of Pediatrics,Sichuan Provincial Maternity and Child Health Care Hospital,Chengdu 610000,China)

机构地区：[1]四川省妇幼保健院儿科,四川成都610000

出　　处：《胃肠病学和肝病学杂志》2024年第6期789-792,共4页Chinese Journal of Gastroenterology and Hepatology

基　　金：成科财(2021-YF05-01658-SN);四川省妇幼保健院科技创新基金项目(CXPJ017-2020)。

摘　　要：报道1例新发ABCC2基因复合杂合突变的Dubin-Johnson综合征(Dubin-Johnson syndrome,DJS)患儿临床表现及基因型,扩展DJS突变的基因谱;并进行文献复习,总结我国DJS儿童患病的临床特点,为该病早期发现及诊断提供思路。This study presented the clinical manifestations and genotypes of a new case of Dubin-Johnson syndrome(DJS)with complex heterozygous mutation of ABCC2 gene,caming to expand the gene profile of DJS mutation.The clinical characteristics of DJS were summarized to aid in early diagnosis.

关 键 词：DUBIN-JOHNSON综合征 ABCC2 基因突变 

分 类 号：R725.7[医药卫生—儿科]