The kidney in Fabry's disease. (30th May 2014)

• Record Type: Journal Article
• Authors: Pisani, A.; Visciano, B.; Imbriaco, M.; Di Nuzzi, A.; Mancini, A.; Marchetiello, C.; Riccio, E.
• Is Part Of: Clinical genetics. Volume 86:Number 4(2014:Oct.)
• Page Start: 301
• Page End: 309
• Publication Date: 2014-05-30
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12386
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12386-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12386-para-0001">Fabry disease (FD) is an X‐linked disease in which mutations of the <italic>GLA</italic> 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.</p> </abstract>