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The kidney in Fabry's disease
Author(s) -
Pisani A.,
Visciano B.,
Imbriaco M.,
Di Nuzzi A.,
Mancini A.,
Marchetiello C.,
Riccio E.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12386
Subject(s) - globotriaosylceramide , fabry disease , enzyme replacement therapy , medicine , renal function , nephropathy , proteinuria , kidney disease , endocrinology , urology , kidney , diabetic nephropathy , disease , diabetes mellitus , gastroenterology
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.