1. Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report
- Author
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Valeria Di Stefano, Marta Mancarella, Antonia Camporeale, Anna Regalia, Marta Ferraresi, Marco Pisaniello, Elena Cassinerio, Federico Pieruzzi, and Irene Motta
- Subjects
Fabry disease ,N215S ,GLA ,cardiac variant ,late-onset phenotype ,kidney transplant ,Medicine ,Pharmacy and materia medica ,RS1-441 - Abstract
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.
- Published
- 2021
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