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NDT Advance Access originally published online on March 16, 2009
Nephrology Dialysis Transplantation 2009 24(6):1736-1743; doi:10.1093/ndt/gfp105
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© The Author [2009]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org


Nephropathy in Fabry disease: the importance of early diagnosis and testing in high-risk populations*

Björn Öqvist1, Barry M. Brenner2, João Paulo Oliveira3, Alberto Ortiz4, Roland Schaefer5, Einar Svarstad6, Christoph Wanner7, Kate Zhang8 and David G. Warnock9

1 Department of Nephrology, University Hospital of Lund, Sweden 2 Renal Division, Brigham and Women's Hospital, Boston, MA, USA 3 Departments of Nephrology and of Human Genetics, Faculty of Medicine, Hospital São João, Porto, Portugal 4 Department of Nephrology, Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain 5 Department of Medicine, University of Muenster, Muenster, Germany 6 Medical Department, Haukeland University Hospital and Institute of Medicine, University of Bergen, Bergen, Norway 7 Division of Nephrology, Department of Medicine, University of Würzburg, Germany 8 Genzyme Corp., Framingham, MA 9 Division of Nephrology, Department of Medicine and Physiology, University of Alabama, Birmingham, AL, USA

Correspondence and offprint requests to: Björn Öqvist; E-mail: Bjorn.Oqvist@med.lu.se

Keywords: alpha-Gal A; chronic kidney disease; diagnostic assays; enzyme replacement therapy; newborn screening

The first 150 words of the full text of this article appear below.



   Introduction
 
Fabry disease is an X-linked lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A (alpha-Gal A). Glycosphingolipids, predominantly globotriaosylceramide (GL-3), progressively accumulate in vascular endothelial cells, a variety of renal and cardiac cells and neural cells, and symptoms often first appear in childhood or adolescence [1–3]. Progressively worsening, life-threatening complications developing in adulthood may include chronic kidney disease (CKD), end-stage renal disease (ESRD), heart disease and stroke [1,4,5]. Nephropathy is a dominant feature of advanced Fabry disease. The average age for the development of clinical nephropathy is 27 years, with up to half of the patients with Fabry disease developing ESRD by the time they reach their 50s. Only a few survive past the age of 60 years [6]. Figure 1 provides an extreme example of progressive loss of kidney function in a young male with Fabry . . . [Full Text of this Article]



   Enzyme replacement therapy for Fabry nephropathy
 


   Laboratory assays for diagnosing Fabry disease
 
Diagnostic alpha-Gal A enzyme assays
Molecular genetic analysis


   Laboratory methods for screening Fabry disease
 
Measuring the alpha-Gal A enzyme activity in DBS
Multiplex enzyme activity assays
GL-3 assays
Combined measurement of urinary GL-3 and alpha-Gal A protein


   Testing high-risk populations for Fabry disease
 
Patients undergoing dialysis
Other high-risk testing opportunities
Testing and diagnosis of Fabry disease in patients with CKD
Pedigree analysis
Family tree work-up
Newborn screening (NBS)


   Kidney biopsy
 


   Conclusions
 

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