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Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy.
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2020-05-15 , DOI: 10.1016/j.ymgmr.2020.100596 Bun Sheng 1 , Ka Fai Yim 1 , Lin Kiu Lau 2 , Han Chih Hencher Lee 3 , Ka Shun Samuel Fung 1 , Ka Fai Johnny Ma 4 , Wai Leung Chak 5
更新日期：2020-05-15
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2020-05-15 , DOI: 10.1016/j.ymgmr.2020.100596 Bun Sheng 1 , Ka Fai Yim 1 , Lin Kiu Lau 2 , Han Chih Hencher Lee 3 , Ka Shun Samuel Fung 1 , Ka Fai Johnny Ma 4 , Wai Leung Chak 5
Affiliation
Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-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.
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