Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
复制标题
DOI：
10.1016/j.ymgmr.2020.100596
复制
发表时间：
2020-09-01
影响因子：
1.9
通讯作者：
Chak, Wai Leung
中科院分区：
文献类型：
--
作者：
Sheng, Bun;Yim, Ka Fai;Chak, Wai Leung
法布里病是一种X-连锁溶酶体贮积病，由编码α-半乳糖苷酶A的GLA基因突变引起。p.N215S（c.644A > G [p.Asn215Ser]）基因型是欧洲或北美血统个体中报告的最常见的迟发型变异。它通常被称为心脏变异，虽然在其他器官系统的表现已被观察到。在这份报告中，我们描述了一个肾病介绍两个相关的中国法布里病患者p.N215S。
Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes alpha-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of European or North American descent. It is usually referred to as a cardiac variant, although manifestations in other organ systems have been observed. In this report, we describe a nephropathy presentation in two related Chinese Fabry disease patients with p.N215S.