Fabry心肌病的诊断与治疗进展

法布里病（Fabry）是一种罕见的X染色体连锁遗传性疾病， 由于a-半乳糖苷酶A( alphagalactosidase A, GLA, 一种溶酶体酶)基因发生突变或缺失，引起体内GLA部分或全部缺乏，造成其代谢底物三己糖酰基鞘脂醇( globotriaosylceramide, Gb3)在人体各器官、组织蓄积，引起多个系统损害，其中心血管系统受累常见，主要表现为心肌肥厚、瓣膜损害、收缩/舒张功能减低，心律失常等，这些病变与患者心力衰竭、心源性猝死等密切相关。为了提高临床医生对Fabry病患者心脏受累表现的认识和诊治，本文将对Fabry 心肌病诊断与治疗的新进展作一综述。

Advances in the diagnosis and treatment of Fabry cardiomyopathy

Anderson-Fabry disease is an rare X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. Deficiency in a-Gal A causes an accumulation of as globotriaosylceramide (Gb3) in lysosomes within various tissues .Cardiac involvement manifesting as ventricular hypertrophy, valvular abnormalities ,systolic and diastolic dysfunction and conduction tissue disease is common in AFD and is associated with heart failure, sudden cardiac death . In order to improve the understanding of Fabry disease ,we will review the new progress in the diagnosis and treatment of Fabry cardiomyopathy.