The kidney in Fabry's disease

The kidney in Fabry's disease 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

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Publisher
Wiley
Copyright
"© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd"
ISSN
0009-9163
eISSN
1399-0004
D.O.I.
10.1111/cge.12386
Publisher site
See Article on Publisher Site

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.

Journal

Clinical GeneticsWiley

Published: Oct 1, 2014

Keywords: ; ; ;

References

  • Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey
    Mehta, A; Ricci, R; Widmer, U
  • Enzyme replacement therapy in patients with Fabry disease: state of the arte and review of the literature
    Pisani, A; Visciano, B; Roux, GD
  • Screening for Fabry disease using whole blood spots fails to identify one‐third of female carriers
    Linthorst, GE; Vedder, AC; Aerts, JM; Hollak, CE.
  • A classical phenotype of Anderson‐Fabry disease in a female patient with intronic mutations of the GLA gene: a case report
    Pisani, A; Imbriaco, M; Zizzo, C
  • Immunohistochemical localization of glycosphingolipid in urinary renal tubular cells in Fabry's disease
    Chatterjee, S; Gupta, P; Pyeritz, RE; Kwiterovich, PO
  • Enzyme replacement therapy for Fabry disease: morphologic and histochemical changes in the urinary sediments
    Utsumi, K; Mitsuhashi, F; Asahi, K
  • Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography‐tandem mass spectrometry in healthy infants from birth to 6 months
    Barr, C; Clarke, JT; Ntwari, A; Drouin, R; Auray‐Blais, C
  • Fabry disease: guidelines for the evaluation and management of multiorgan system involvement
    Eng, CM; Germain, DP; Banikazemi, M
  • Comparison of the effects of agalsidase alpha and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice
    Sakuraba, H; Murata‐Ohsawa, M; Kawashima, I
  • Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
    Mehta, A; Beck, M; Elliott, P

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