Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
| Autor: | Han Chih Hencher Lee, Lin Kiu Lau, Ka Fai Yim, Bun Sheng, Wai Leung Chak, Ka Shun Samuel Fung, Ka Fai Johnny Ma |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty α-galactosidase A Case Report Nephropathy Fabry nephropathy Endocrinology Gla gene Genotype Genetics Lysosomal storage disease medicine Non-classic phenotype Fabry lcsh:QH301-705.5 Molecular Biology Pathological Organ system lcsh:R5-920 Fabry disease Chinese Variant Fabry business.industry Later-onset variant medicine.disease lcsh:Biology (General) Mutation (genetic algorithm) lcsh:Medicine (General) business |
| Zdroj: | Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100596-(2020) |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgmr.2020.100596 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|