Fabry’s病是性连锁隐性遗传病 ,基因缺失位于Xq2 2 ,可导致α 半乳糖苷酶A不足并致全身性细胞溶酶体内糖鞘脂积聚 ,常见于血管的内皮和平滑肌细胞、心脏、肾脏、皮肤和中枢神经系统。许多患者发生大脑血管扩张性动脉病 ,并可引起心脏病 ,后者又增加心源性栓塞卒中的危险。Fabr Fabry’s disease is a sex-linked recessive disorder with a gene deletion located at Xq2 2, resulting in a deficiency of α-galactosidase A and accumulation of glycosphingolipids in systemic lysosomes, commonly found in vascular endothelial and smooth muscle cells, heart, and kidney , Skin and central nervous system. Many patients develop cerebral dilated arterial disease and can cause heart disease, which in turn increases the risk of cardioembolic stroke. Fabr