Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
Clin Nephrol
; 57(1): 1-8, 2002 Jan.
Article
em En
| MEDLINE
| ID: mdl-11837797
ABSTRACT
Fabry disease, an X-linked lysosomal storage disease, results from the deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A) and the progressive accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids. In classically affected males with this inherited nephropathy, early and marked GL-3 deposition in the podocytes leads to proteinuria in childhood or adolescence. With increasing age, GL-3 deposition in renal microvascular endothelial cells, and to a lesser extent in interstitial and mesangial cells, leads to renal insufficiency in the third to fifth decades of life. Recently identified "renal variants" who lack the classical disease manifestations of acroparesthesias, angiokeratoma, hypohidrosis, and characteristic corneal/lenticular opacities also develop renal failure. In contrast, "cardiac variants" who also lack the classical phenotype, develop proteinuria in adulthood, but survive a normal lifespan without developing renal failure. Here, we review the renal involvement and pathology in the classical, renal and cardiac variant phenotypes, and present highlights of the preclinical studies and clinical trials that demonstrated the safety and effectiveness of recombinant alpha-Gal A replacement for this inherited nephropathy.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Fabry
/
Alfa-Galactosidase
/
Nefropatias
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
Limite:
Adult
/
Animals
/
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Clin Nephrol
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Estados Unidos