Dubin-Johnson综合征患者ABCC2基因遗传新位点及其家系基因突变1例分析并文献复习  

Analysis of a genetically novel locus in the ABCC2 gene and its familial mutations in a patient with Dubin-Johnson syndrome and literature review

作　　者：黄世鑫 谭琰 吕英花 郑冬雅 夏秋月 HUANG Shixin;TAN Yan;LYU Yinghua;ZHENG Dongya;XIA Qiuyue(Department of Gastroenterology,the First Affiliated Hospital of Hainan Medical University,Haikou 570100,China)

机构地区：[1]海南医学院第一附属医院消化内科,海南海口570100

出　　处：《胃肠病学和肝病学杂志》2024年第7期948-952,共5页Chinese Journal of Gastroenterology and Hepatology

摘　　要：Dubin-Johnson综合征(Dubin-Johnson syndrome,DJS)是一种罕见的常染色体隐性遗传病,其发病机制与分布于肝细胞的极化上皮根尖小管膜上的编码MRP2基因ABCC2发生突变相关,但我国DJS患者中ABCC2基因突变病因尚不明确,且相关研究病例报道较少。本文分析1例青少年男性DJS患者的临床资料和基因突变。该患者因慢性黄疸及血直接胆红素升高而显著,基因检测揭示了ABCC2和UGT1A1基因的杂合变异,这些变异均由其父母遗传。此外,该患者姐姐也发现了ABCC2基因的相同突变,但UGT1A1基因未见变异。因此确诊该患者为DJS,不除外同时合并Gilbert综合征和Crigler-Najjar综合征Ⅱ型。文中报道的两个ABCC2基因突变在之前的文献中未被报道,为我国DJS诊治提供了重要的临床资料,同时说明基因二代检测有助于了解DJS的基因型与表型联系。Dubin-Johnson syndrome(DJS)is a rare autosomal recessive genetic disease,the pathogenesis is associated with mutations in ABCC2,the gene encoding MRP2,which is distributed in the apical tubule membrane of the polarized epithelium of hepatocytes,the etiolo-gy of ABCC2 gene mutation in DJS patients in China is still unclear,and there are fewer case reports of related studies.In this paper,we an-alyzed the clinical data and gene mutation of an adolescent male DJS patient with the aim of providing more references for future DJS diagno-sis.This patient was remarkable for chronic jaundice and elevated blood direct bilirubin,and genetic testing revealed heterozygous variants in the ABCC2 and UGT1A1 genes,which were inherited from his parents.In addition,the same mutation in the ABCC2 gene was found in the patient′s old sister,but no variant was seen in the UGT1A1 gene.Therefore,the diagnosis of DJS was confirmed in this patient,not exclu-ding the concomitant combination of Gilbert syndrome and Crigler-Najjar syndrome typeⅡ.The two ABCC2 gene mutations reported in the paper have not been previously reported in the literature,providing important clinical information for the diagnosis and management of DJS in China,and demonstrating that genetic second generation testing is useful in understanding the genotypic and phenotypic associations of DJS.

关 键 词：DUBIN-JOHNSON综合征 ABCC2基因 基因检测 

分 类 号：R57[医药卫生—消化系统]