关键词: 法布里病; 脑血管意外; 酶替代疗法

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