【摘要】 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。更多还原

【Abstract】 Objective To study the prevalence of Fabry disease in patients with hypertrophic cardiomyopathy(HCM).Methods We screened the plasma α-galactosidase A activity in 427 patients with HCM.Patients with low activity(0-30% of that in the normal controls in men,and 0-50% in women) underwent genetic study of the GLA gene.Those patients with low enzymatic activity and disease-causing mutations in the GLA gene were diagnosed as having Fabry disease.Results Thirteen patients had a lower enzymatic activity compared with the normal controls(P<0.05).Four men and one woman had GLA mutations:A143T,E358del,S238N,G1170A and G1168A.We found 3 carriers in the female patient’s family.The prevalence of Fabry disease in the population with HCM was 1.2%.More of the patients with Fabry disease had kidney disease and a family history of kidney disease compared with the other patients with HCM(P<0.05).Conclusion Patients with Fabry disease are often misdiagnosed as having HCM,so before diagnosing HCM to those HCM patients complicated by kidney disease,we should differentiate them from patients with hypertrophic cardiomyopathy.更多还原