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目的研究Fabry病误诊为肥厚型心肌病的临床状况,并分析汉族人群中该病的临床特点。方法应用底物法对427例诊断为肥厚型心肌病的患者进行α-半乳糖苷酶A活性测定,对活性异常的患者进行DNA提取基因测序分析,合并酶活性异常和基因突变的患者被认为患有此病,收集该类患者的临床资料进行分析。结果13例患者的酶活性明显低于正常对照组(P<0.05)。基因学分析发现,其中5例患者携带有GLA基因突变,被确诊为Fabry病。心肌肥厚的人群中,约有1.2%为Fabry病患者,该病患者的肾脏疾病发病率和肾病家族史明显高于其他左室肥厚患者(P<0.05)。结论Fabry病患者往往会因心肌肥厚而被误诊为肥厚型心肌病,对合并肾脏疾患的心肌肥厚患者在诊断肥厚性心肌病前,应排除Fabry病的可能性。
Objective To investigate the clinical status of Fabry’s disease misdiagnosed as hypertrophic cardiomyopathy and to analyze the clinical features of the disease in Han population. Methods The substrate method was used to determine α-galactosidase A activity in 427 patients diagnosed as hypertrophic cardiomyopathy, DNA sequencing was performed in patients with abnormal activity, and patients with abnormal enzyme activity and mutations were considered With this disease, the clinical data of these patients were collected for analysis. Results The enzyme activity of 13 patients was significantly lower than that of the normal control group (P <0.05). Genetic analysis found that 5 of them had GLA mutations and were diagnosed as Fabry’s disease. About 1.2% of people with cardiac hypertrophy are patients with Fabry who have a significantly higher incidence of kidney disease and family history of kidney disease than those with other patients with left ventricular hypertrophy (P <0.05). Conclusion Patients with Fabry disease are often misdiagnosed as hypertrophic cardiomyopathy due to myocardial hypertrophy. The possibility of Fabry disease should be excluded before the diagnosis of hypertrophic cardiomyopathy in patients with cardiac hypertrophy with renal disease.