The kidney in Fabry's disease.
Clin Genet
; 86(4): 301-9, 2014 Oct.
Article
em En
| MEDLINE
| ID: mdl-24645664
ABSTRACT
Fabry disease (FD) is an X-linked disease in which mutations of the GLA gene result in a deficiency of the enzyme α-galactosidase A and subsequent progressive, intralysosomal deposition of undegraded glycosphingolipid products, primarily globotriaosylceramide, in multiple organs. Progressive nephropathy is one of the main features of FD and is marked by an insidious development, with an overall rate of progression of chronic kidney disease (CKD) very similar to diabetic nephropathy. Untreated patients usually develop end stage renal disease in their 50s. The decline in renal function in FD is adversely affected by male gender, advanced CKD, hypertension and, in particular, severe proteinuria. Enzyme replacement therapy (ERT) has been shown to slow the progression of Fabry nephropathy. The current consensus is that ERT should be started in all men and women with signs of renal involvement.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Alfa-Galactosidase
/
Insuficiência Renal Crônica
/
Terapia de Reposição de Enzimas
Tipo de estudo:
Etiology_studies
Limite:
Humans
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2014
Tipo de documento:
Article