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.

Di Stefano, V., Mancarella, M., Camporeale, A., Regalia, A., Ferraresi, M., Pisaniello, M., et al. (2021). Migalastat treatment in a kidney-transplanted patient with fabry disease and n215s mutation: The first case report. PHARMACEUTICALS, 14(12) [10.3390/ph14121304].

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

Pieruzzi F.
Penultimo
;
2021

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.
Articolo in rivista - Articolo scientifico
Cardiac variant; Fabry disease; GLA; Hypertrophic cardiomyopathy; Kidney transplant; Late-onset phenotype; Migalastat; N215S;
English
Di Stefano, V., Mancarella, M., Camporeale, A., Regalia, A., Ferraresi, M., Pisaniello, M., et al. (2021). Migalastat treatment in a kidney-transplanted patient with fabry disease and n215s mutation: The first case report. PHARMACEUTICALS, 14(12) [10.3390/ph14121304].
Di Stefano, V; Mancarella, M; Camporeale, A; Regalia, A; Ferraresi, M; Pisaniello, M; Cassinerio, E; Pieruzzi, F; Motta, I
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/352579
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