Fabry病生物标志物研究进展

肾脏病与透析肾移植杂志 ›› 2012, Vol. 21 ›› Issue (5): 471-474.

Fabry病生物标志物研究进展

出版日期:2012-10-24 发布日期:2012-10-24

Advances in biomarker research of Fabry disease

Online:2012-10-24 Published:2012-10-24

摘要/Abstract

摘要：

摘要 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（alpha-galactosidase-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诊断方法并聚焦于生物诊断标记物的最新进展，以进一步完善现有的诊断体系。

关键词: Fabry病 , 诊断方法 , 生物标记物

Abstract:

ABSTRACT: 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.

Key words: Fabry disease , diagnostic methods , biomarkers

欧阳彦，陈楠. Fabry病生物标志物研究进展[J]. 肾脏病与透析肾移植杂志, 2012, 21(5): 471-474.

OU Yang-yan, CHEN Nan. Advances in biomarker research of Fabry disease[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2012, 21(5): 471-474.

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ISSN 1006-298X CN 32-1425/R