title: The kidney in Fabry's disease.
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.
authors.affiliation: Department of Nephrology, Federico II University of Naples, Naples, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pisani
authors.forename: B
authors.initials: B
authors.lastname: Visciano
authors.forename: M
authors.initials: M
authors.lastname: Imbriaco
authors.forename: A
authors.initials: A
authors.lastname: Di Nuzzi
authors.forename: A
authors.initials: A
authors.lastname: Mancini
authors.forename: C
authors.initials: C
authors.lastname: Marchetiello
authors.forename: E
authors.initials: E
authors.lastname: Riccio
mesh_terms: D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D051436:Renal Insufficiency, Chronic / Q000209:etiology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D000519:alpha-Galactosidase / Q000235:genetics* / Q000378:metabolism
chemical_list: D006028:Glycosphingolipids; D000519:alpha-Galactosidase
keywords: Fabry disease; Fabry nephropathy; chronic kidney disease; enzyme replacement therapy