Danon病临床研究进展  

Advances in Danon Disease Clinical Research

作　　者：蔡迟[1] 樊朝美[1] 

机构地区：[1]北京协和医学院中国医学科学院阜外心血管病医院卫生部心血管药物临床研究重点实验室,北京100037

出　　处：《心血管病学进展》2012年第1期39-42,共4页Advances in Cardiovascular Diseases

基　　金："重大新药创制"科技重大专项-<创新药物临床研究技术平台建设>(2008ZX09312-018)

摘　　要：Danon病是一种X连锁显性遗传性溶酶体病,以肥厚型心肌病、骨骼肌病和智力障碍三联征为主要临床表现,其引起的心肌病变与典型的肥厚型心肌病相似。Ⅱ型溶酶体相关膜蛋白是一种高度糖基化的蛋白质,是溶酶体膜的重要组成成份,编码Ⅱ型溶酶体相关膜蛋白的基因突变是导致Danon病的重要病因。现对Danon病的发病机制及其临床特点作一综述。Danon disease, an X-linked lysosome disease caused by the mutations of genes encoding lysosome-associated membrane protein-2 which is a highly glycosylated protein and an important constituent of the lysosomal membrane, is characterized clinically by the triad of cardiomyopathy, myopathy, and mental retardation. Danon disease produces a cardiomyopathy that clinically mimics hypertrophic cardiomyopathy due to sarcomere protein mutations. This article reviews the pathogenesis and clinical profile of Danon disease.

关 键 词：Danon病 Ⅱ型溶酶体相关膜蛋白 发病机制 临床特点 

分 类 号：R542.2[医药卫生—心血管疾病]