糖尿病合并由ABCB11基因突变导致的肝内胆汁淤积症及肝细胞癌一例报道  

Diabetes combined with intrahepatic cholestasis and hepatocellular carcinoma caused by a mutation of ABCB11 gene-a case report

作　　者：常丽君 曹聪慧 王晓黎[2] 李静[2] CHANG Lijun;CAO Conghui;WANG Xiaoli(Department of Endocrinology,Donggang Center Hospital,Dandong 118300,China)

机构地区：[1]东港市中心医院内分泌科,丹东118300 [2]中国医科大学附属第一医院内分泌与代谢病科

出　　处：《中国糖尿病杂志》2025年第1期65-69,共5页Chinese Journal of Diabetes

摘　　要：本文报道1例罕见的DM合并由ABCB11基因突变导致的肝内胆汁淤积症及肝细胞癌病例,经手术及药物治疗后,患者的消化道症状及血糖均得到不同程度控制。DM合并原发性肝内胆汁淤积症目前尚少见报道,介绍本病例的临床表现、基因学特征和治疗经过,拟为临床医生掌握该病的诊治和随访提供参考。This paper reports an early-onset diabetes patient combined with intrahepatic cholestasis and hepatocellular carcinoma caused by a mutation of ABCB11 gene.After surgery and drug treatment,the patient's digestive tract symptoms and diabetes were alleviated.Diabetes with primary intrahepatic cholestasis has not been reported in the literature.By introducing this case's clinical manifestations,genetic characteristics and clinical course,we hope to provide a reference for clinicians to understand the diagnosis,treatment and follow-up of this disease.

关 键 词：ABCB11基因 BSEP蛋白 肝内胆汁淤积症 糖尿病 肝细胞癌 

分 类 号：R735.7[医药卫生—肿瘤] R587.1[医药卫生—临床医学]