All the authors have declared no competing interest.
The kidney in Fabry's disease
Version of Record online: 30 MAY 2014
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 86, Issue 4, pages 301–309, October 2014
How to Cite
The kidney in Fabry's disease., , , , , , .
- Issue online: 16 SEP 2014
- Version of Record online: 30 MAY 2014
- Accepted manuscript online: 19 MAR 2014 10:27AM EST
- Manuscript Accepted: 17 MAR 2014
- Manuscript Revised: 25 FEB 2014
- Manuscript Received: 14 JAN 2014
- chronic kidney disease;
- enzyme replacement therapy;
- Fabry disease;
- Fabry nephropathy
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.