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.File | Dimensione | Formato | |
---|---|---|---|
10281-352579_VoR.pdf
accesso aperto
Tipologia di allegato:
Publisher’s Version (Version of Record, VoR)
Licenza:
Creative Commons
Dimensione
1.32 MB
Formato
Adobe PDF
|
1.32 MB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.