HJV 基因突变相关血色病1例并文献复习  

Hemochromatosis associated with hemojuvelin gene mutation: a case report and literature review

作　　者：李慧博 耿宁[2] 刘守胜[3] 辛永宁 LI Huibo;GENG Ning;LIU Shousheng;XIN Yongning(Weifang Medical College,Weifang 261042,China)

机构地区：[1]潍坊医学院,山东潍坊261042 [2]康复大学青岛医院(青岛市市立医院)感染性疾病科 [3]康复大学青岛医院(青岛市市立医院)临床研究中心 [4]山东省医药卫生肝脏疾病临床研究重点实验室

出　　处：《青岛大学学报（医学版）》2024年第2期293-296,共4页Journal of Qingdao University(Medical Sciences)

基　　金：国家自然科学基金面上项目(32171277)。

摘　　要：报告了1例罕见的血幼素(HJV)基因突变(p.C321X)相关血色病病人并复习相关文献,详细介绍了其临床特征、诊断过程及治疗方案,同时介绍了该病的流行病学特征、致病机制及变异类型,并分析了该病在中国的地域分布特点。旨在为该类病人的临床诊治提供参考,提高临床医生对该类病人的识别和管理能力,并为HJV基因突变谱的丰富和完善提供数据支持。This article reports a rare case of hemochromatosis associated with hemojuvelin(HJV)gene mutation(p.C321X)and reviews related articles.It describes in detail the clinical features,diagnostic process,and treatment regimenof the patient and introduces the epidemiology,pathogenesis,and mutation types of the disease,as well as the geographical distribution characteristics of the disease in China.This article aims to provide a reference for the clinical diagnosis and treatment of such patients,improve the ability to identify and manage such patients among physicians,and provide data support for the enrichment and improvement of the spectrum of HJV gene mutation.

关 键 词：血色素沉着症 血色素沉着蛋白质 突变 病例报告 

分 类 号：R589.9[医药卫生—内分泌]