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.

Migalastat treatment in a kidney-transplanted patient with fabry disease and n215s mutation: The first case report / V. Di Stefano, M. Mancarella, A. Camporeale, A. Regalia, M. Ferraresi, M. Pisaniello, E. Cassinerio, F. Pieruzzi, I. Motta. - In: PHARMACEUTICALS. - ISSN 1424-8247. - 14:12(2021 Dec 14), pp. 1304.1-1304.7. [10.3390/ph14121304]

Migalastat treatment in a kidney-transplanted patient with fabry disease and n215s mutation: The first case report

V. Di Stefano
Primo
;
M. Mancarella
Secondo
;
A. Regalia;M. Ferraresi;M. Pisaniello;I. Motta
Ultimo
2021-12-14

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.
Cardiac variant; Fabry disease; GLA; Hypertrophic cardiomyopathy; Kidney transplant; Late-onset phenotype; Migalastat; N215S
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/905562
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