Fabry病是X性连锁隐性遗传性疾病 ,又称α 半乳糖苷酶缺乏症 ,是由于先天性α 半乳糖苷酶A缺乏所致 ,属于溶酶体贮积病的一种。 1898年由An derson和JohannFabry各报告 1例故名Anderson Fabry病 ,简称Fabry病[1] 。Fabry病特征性临床表现为弥漫性皮肤血管角质瘤和发作性肢体疼 Fabry disease is a X-linked recessive genetic disease, also known as α-galactosidase deficiency, is due to a lack of congenital alpha galactosidase A, is a lysosomal storage disease. In 1898 by An derson and JohannFabry each reported an example of Anderson Fabry disease, referred to as Fabry disease [1]. The characteristic clinical manifestations of Fabry’s disease are diffuse cutaneous angiomatous tumors and episodes of limb pain