Abstract: Fabry disease is a X-linked inherited recessive disorder. Partial or total deficiency of the enzyme α-galactosidase A caused by deficiency or mutation of gene at Xq22 leads to failure to catabolize cellular lipids. The progressive accumulation of its production such as globotriaosylceramide(Gb3)in a range of cells and tissues including renal, heart, vascular walls and nervous systems results in organ damage in many systems. Clinical manifestations concerning multi-systems maybe exist during young patients. The main manifestation of central nervous system is transient ischemic attacks or ischemic stroke. Fabry disease must be considered in all cases of unexplained stroke in young patients. Recent years, a new special therapy--enzyme replacement therapy has a good effect on this disease. The therapy should start at early stage but not after having organs damage. Earlier diagnosis and treatment can improve the prognosis and patients’ living quality.

Key words: Fabry’s disease; Cerebrovascular accident; Enzyme replacement therapy

摘要： Fabry病是一种X染色体性连锁隐性遗传性疾病。由于染色体Xq22上的基因突变或缺失，引起其编码蛋白产物α-半乳糖苷酶部分或全部缺乏，使该蛋白的代谢底物三聚己糖神经酰胺（globotriao sylceramide，Gb3）不能分解，继而在肾、心、血管壁和神经系统等组织细胞中进行性病理性堆积，从而引起多系统脏器的损害。该病在青－中年时期即可出现多系统损害的临床表现，中枢神经系统的主要表现为短暂性脑缺血发作和缺血性卒中，因此对于不明原因的青年卒中要充分考虑到Fabry’s病的可能性。近年来一种全新的特殊治疗方法——酶替代疗法显示了较好的临床疗效，但强调在疾病早期就应开始治疗而不是等到器官损害之后。尽早诊断并提供适当的治疗方法可最大限度的改善预后和提高生活质量。

关键词: 法布里病; 脑血管意外; 酶替代疗法