Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy

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 refe...

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Autores principales: Sheng, Bun, Yim, Ka Fai, Lau, Lin Kiu, Lee, Han Chih Hencher, Fung, Ka Shun Samuel, Ma, Ka Fai Johnny, Chak, Wai Leung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229279/
https://www.ncbi.nlm.nih.gov/pubmed/32435590
http://dx.doi.org/10.1016/j.ymgmr.2020.100596
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author Sheng, Bun
Yim, Ka Fai
Lau, Lin Kiu
Lee, Han Chih Hencher
Fung, Ka Shun Samuel
Ma, Ka Fai Johnny
Chak, Wai Leung
author_facet Sheng, Bun
Yim, Ka Fai
Lau, Lin Kiu
Lee, Han Chih Hencher
Fung, Ka Shun Samuel
Ma, Ka Fai Johnny
Chak, Wai Leung
author_sort Sheng, Bun
collection PubMed
description 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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spelling pubmed-72292792020-05-20 Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy Sheng, Bun Yim, Ka Fai Lau, Lin Kiu Lee, Han Chih Hencher Fung, Ka Shun Samuel Ma, Ka Fai Johnny Chak, Wai Leung Mol Genet Metab Rep Case Report 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. Elsevier 2020-05-15 /pmc/articles/PMC7229279/ /pubmed/32435590 http://dx.doi.org/10.1016/j.ymgmr.2020.100596 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Sheng, Bun
Yim, Ka Fai
Lau, Lin Kiu
Lee, Han Chih Hencher
Fung, Ka Shun Samuel
Ma, Ka Fai Johnny
Chak, Wai Leung
Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
title Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
title_full Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
title_fullStr Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
title_full_unstemmed Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
title_short Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
title_sort two related chinese fabry disease patients with a p.n215s pathological variant who presented with nephropathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229279/
https://www.ncbi.nlm.nih.gov/pubmed/32435590
http://dx.doi.org/10.1016/j.ymgmr.2020.100596
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