B型尼曼-皮克病及其肝脏受累的异质性表现1例报告  

Niemann-Pick disease type B and heterogeneous manifestations of its liver involvement:A case report

作　　者：阳乔 沈轶 史悦 王进[3] 吕芳芳[1] YANG Qiao;SHEN Yi;SHI Yue;WANG Jin;LYU Fangfang(Department of Infectious Diseases,Sir Run Run Shaw Hospital,Zhejiang University School of Medicine,Hangzhou 310016,China;Biomedical Research Center,Sir Run Run Shaw Hospital,Zhejiang University School of Medicine,Hangzhou 310016,China;Department of Pathology,Sir Run Run Shaw Hospital,Zhejiang University School of Medicine,Hangzhou 310016,China;Department of Infectious Diseases,Sir Run Run Shaw Alar Hospital,Zhejiang University School of Medicine,Alar,Xinjiang 843399,China)

机构地区：[1]浙江大学医学院附属邵逸夫医院肝病感染科,杭州310016 [2]浙江大学医学院附属邵逸夫医院生物医学研究中心,杭州310016 [3]浙江大学医学院附属邵逸夫医院病理科,杭州310016 [4]浙江大学医学院附属邵逸夫医院新疆兵团阿拉尔医院感染科,新疆阿拉尔843399

出　　处：《临床肝胆病杂志》2024年第2期356-360,共5页Journal of Clinical Hepatology

基　　金：浙江省自然科学基金(LY21H030011);浙江省医药卫生科技青年创新人才支持计划项目(2022RC196)。

摘　　要：本文报道以“肝脾肿大待查”为主诉,经各项检查确诊为B型尼曼-皮克病的案例,并通过文献复习,总结B型尼曼-皮克病肝脏受累的异质性表现,旨在提高疑难罕见肝脏疾病的临床诊治水平。This article reports a case with the chief complaint of“hepatosplenomegaly to be investigated”and a confirmed diagnosis of Niemann-Pick disease type B after various tests,and a literature review was conducted to summarize the heterogeneous manifestations of liver involvement in type B Niemann-Pick disease,in order to improve the clinical management of difficult and rare liver diseases.

关 键 词：尼曼-皮克病 B型 肝肿大 遗传性疾病 先天性 基因检测 

分 类 号：R596.1[医药卫生—内科学] R575[医药卫生—临床医学]