遗传性血色病并发严重心力衰竭一例  

Hereditary Hemochromatosis Complicated With Severe Heart Failure:a Case Report

作　　者：李冠男[1] 陈建州 吴翔 杨帆[2] 吴小婷 许安迪 牡丹[5] 张启国[6] 顾蓉[1] 徐标[1] 王涟[1] LI Guannan;CHEN Jianzhou;WU Xiang;YANG Fan;WU Xiaoting;XU Andi;MU Dan;ZHANG Qiguo;GU Rong;XU Biao;WANG Lian(Department of Cardiology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China;Department of Endocrinology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China;Department of Critical Care Medicine,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China;Department of Pathology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China;Department of Radiology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China;Department of Hematology,Nanjing Drum Tower Hospital,The Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]南京大学医学院附属鼓楼医院心血管内科,南京210008 [2]南京大学医学院附属鼓楼医院内分泌科,南京210008 [3]南京大学,医学院附属鼓楼医院重症医学科,南京210008 [4]南京大学医学院附属鼓楼医院病理科,南京210008 [5]南京大学医学院附属鼓楼医院影像科,南京210008 [6]南京大学医学院附属鼓楼医院血液内科,南京210008

出　　处：《中国循环杂志》2024年第10期1028-1032,共5页Chinese Circulation Journal

基　　金：国家自然科学基金面上项目(81870204)。

摘　　要：遗传性血色病是一种罕见的常染色体遗传性疾病,可造成肝脏、胰腺、脾脏、心脏及垂体等多器官功能障碍,临床表现多样,因此诊断困难。本文报道了1例累及多脏器,同时并发严重心力衰竭的3型遗传性血色病病例,以提高临床医师对该疾病的认识。Hereditary hemochromatosis is a rare autosomal genetic disorder that can cause multi-organ dysfunction in the liver,pancreas,spleen,heart and pituitary gland,with diverse clinical manifestations,make the diagnosis difficult.In recent years,with the deepening of clinical understanding and the development of genetic diagnosis tools,the diagnostic rate of this disease has increased significantly.In this paper,we report a case of hereditary hemochromatosis type 3 involving multiple organs and complicated by severe heart failure,aiming to improve the clinicians'understanding of this disease and reduce the leakage and misdiagnosis.

关 键 词：遗传性血色病 心力衰竭 转铁蛋白受体2 去铁治疗 

分 类 号：R54[医药卫生—心血管疾病]