As an X-linked lysosomal storage disease, Fabry disease results from mutations in the GLA gene that encodes the lysosomal enzyme α-galactosidase A. A functionally relevant reduction of enzyme activity results in the accumulation of glycosphingolipid, predominantly globotriaosylceramide ( Gb3 ) , within multiple tissues, which causes systemic manifestations. In order to improve the existing diagnostic system of Fabry disease, the previous diagnostic methods, especially the latest development of biomarkers is reviewed.%Fabry病是一种X连锁方式遗传的溶酶体贮积病,其发病机制与编码α半乳糖苷酶A(α-Gal A)的GLA基因发生突变有关,由于相应酶功能缺失,导致神经酰胺三己糖苷(Gb3)等鞘糖脂类物质在各种组织细胞内中堆积,引起相应组织缺血和梗死从而引起病变.本文系统性回顾既往的Fabry病的诊断方法,并聚焦于生物诊断标志物的最新进展,以进一步完善现有的诊断体系.
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