| Autor: |
Valeria Di Stefano, Marta Mancarella, Antonia Camporeale, Anna Regalia, Marta Ferraresi, Marco Pisaniello, Elena Cassinerio, Federico Pieruzzi, Irene Motta |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Pharmaceuticals, Vol 14, Iss 12, p 1304 (2021) |
| Druh dokumentu: |
article |
| ISSN: |
1424-8247 |
| DOI: |
10.3390/ph14121304 |
| Popis: |
Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A>G, p.Asn215Ser) missense mutation usually results in a late-onset phenotype presenting with isolated cardiac involvement. We herein present the case of a patient with N215S mutation with cardiac involvement, namely left ventricular hypertrophy and ventricular arrhythmias, and end-stage renal disease requiring kidney transplantation. To the best of our knowledge, this is the first report of a kidney-transplanted Fabry patient treated with oral pharmacologic chaperone migalastat. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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