肥厚型心肌病患者Fabry病发生情况与临床特点  

Occurrence and clinical features of Fabry's disease in patients with hypertrophic cardiomyopathy

作　　者：韩智红[1] 孟岩[2] 姜腾勇[1] 汪烨[1] 任学军[1] 吴学思[1] 

机构地区：[1]首都医科大学附属北京安贞医院心内科,北京100029 [2]中国协和医科大学基础医学研究所医学遗传室,北京100010

出　　处：《中华实用诊断与治疗杂志》2013年第11期1068-1069,共2页Journal of Chinese Practical Diagnosis and Therapy

摘　　要：目的分析肥厚型心肌病中Fabry病发生情况与临床特点。方法 106例肥厚型心肌病患者采用底物法测定白细胞α半乳糖苷酶活性,对α半乳糖苷酶活性降低患者进行家系与临床特点分析。结果 3例患者(2.8%)白细胞α半乳糖苷酶分别为7.6、21.4、19.8nmol/(h·mg蛋白),均明显低于正常值,诊断为Fabry病;α半乳糖苷酶水平越低,临床症状越严重;3例均为女性,2例有幼年时周期性手脚疼痛病史,其中1例胸部可见皮肤血管角质瘤,1例因肾功能不全3次行肾脏移植;3例均有心肌病家族史,家族中均有脑血管病、心脏病、肾脏疾病或猝死者。结论 Fabry病患者常因心肌肥厚而误诊为肥厚型心肌病,家族史、早年症状与伴有肾功能异常可协助诊断。Objective To analyze the occurrence and the clinical features of Fabry＇s disease in patients with myocardial hypertrophy. Methods Substrate method was used to detect a-galactosidase （a-GAL） activity in 106 patients with hypertrophic cardiomyopathy to analyze the family and clinical data. Results The a GAL activities of 3 patients （2.8%） were 7.6, 21.4 and 19.8 nmol/（h·mg protein）, significantly lower than the normal value, and these three patients were diagnosed as Fabry＇s disease. The clinical symptoms were severer in patients with lower a-GAL activity. These three patients were female, in which two patients had periodic feet and hands pain history in childhood, including one patient had visible thoracic cutaneous angiokeratoma, and the other patient had renal insufficiency and received kidney transplantation three times. All of them had family history of cardiomyopathy, and their family members suffered from cerehrovascular disease, heart disease, kidney disease or sudden death. Conclusion Fabry＇s disease is usually misdiagnosed as hypertrophic cardiomyopathy because of myocardial hypertrophy. Family history, symptoms and abnormal renal function help the diagnosis.

关 键 词：心肌病 肥厚型 FABRY病 a半乳糖苷酶活性 

分 类 号：R542.2[医药卫生—心血管疾病]