@article{d535a8ec90704941bed179c5edf39936,
title = "Migalastat treatment in a kidney-transplanted patient with fabry disease and n215s mutation: The first case report",
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.",
keywords = "Cardiac variant, Fabry disease, GLA, Hypertrophic cardiomyopathy, Kidney transplant, Late-onset phenotype, Migalastat, N215S",
author = "{Di Stefano}, Valeria and Marta Mancarella and Antonia Camporeale and Anna Regalia and Marta Ferraresi and Marco Pisaniello and Elena Cassinerio and Federico Pieruzzi and Irene Motta",
note = "Funding Information: Conflicts of Interest: AC received honoraria for lectures and board meetings from Amicus Therapeutics, Sanofi Genzyme, and Takeda-Shire, and a research grant from Amicus Therapeutics. FP received educational and travel grants, and is an advisory board member of Sanofi Genzyme, Takeda, Amicus Therapeutics, and Chiesi Farmaceutici S.p.A. IM received lecture honoraria for lectures from Sanofi Genzyme and is a member of the advisory boards of Sanofi Genzyme and Amicus. The remaining authors declare no conflict of interest. Funding Information: We thank Manuela Nebuloni (Division of Pathology, ASST Fatebenefratelli? Sacco, Milan, Italy) who helped in carrying out the clinical report overhauling the residual material from the native kidney biopsy by electron microscopy. We also thank Antonella Tosoni (Division of Pathology, ASST Fatebenefratelli?Sacco, Milan, Italy) who provided the kidney biopsy images presented in this report. Publisher Copyright: {\textcopyright} 2021 by the authors. Licensee MDPI, Basel, Switzerland.",
year = "2021",
month = dec,
doi = "10.3390/ph14121304",
language = "English",
volume = "14",
journal = "Pharmaceuticals",
issn = "1424-8247",
publisher = "Multidisciplinary Digital Publishing Institute (MDPI)",
number = "12",
}