Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report.
Fabry disease
GLA
N215S
cardiac variant
hypertrophic cardiomyopathy
kidney transplant
late-onset phenotype
migalastat
Journal
Pharmaceuticals (Basel, Switzerland)
ISSN: 1424-8247
Titre abrégé: Pharmaceuticals (Basel)
Pays: Switzerland
ID NLM: 101238453
Informations de publication
Date de publication:
14 Dec 2021
14 Dec 2021
Historique:
received:
17
11
2021
revised:
08
12
2021
accepted:
11
12
2021
entrez:
28
12
2021
pubmed:
29
12
2021
medline:
29
12
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34959703
pii: ph14121304
doi: 10.3390/ph14121304
pmc: PMC8708478
pii:
doi:
Types de publication
Case Reports
Langues
eng
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