NDT Advance Access first published online on February 13, 2009
This version published online on February 19, 2009
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfp031
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Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
1 Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 2 Division of Nephrology, University of Alabama at Birmingham, Birmingham, AL 3 Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA 4 Department of Pharmacology, 3rd Faculty of Medicine, Charles University Hospital, Prague, Czech Republic 5 Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands 6 Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA, USA 7 Section of Neurogenetics, Department of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark 8 Department of Pediatrics, Cedars-Sinai Medical Center, and Medical Genetics Institute, UCLA School of Medicine, Los Angeles, CA 9 Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA
Correspondence and offprint requests to: Robert J. Desnick, Department of Genetics and Genomic Sciences, PO Box 1498, Mount Sinai School of Medicine, Fifth Avenue at 100th Street, New York, NY 10029, USA. Tel: +1-212-659-6700; Fax: +1-212-360-1809; E-mail: robert.desnick{at}mssm.edu
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Abstract |
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Background. In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and cerebrovascular events has not been well characterized.
Methods. We conducted a retrospective chart review of 279 affected males and 168 females from 27 sites (USA, Canada, Europe). The pre-defined study endpoints included progression of renal, cardiac and cerebrovascular involvement and/or death before the initiation of enzyme replacement therapy.
Results. The mean rate of estimated glomerular filtration rate (eGFR) decline for patients was –2.93 for males, and –1.02 ml/min/1.73 m2/year for females. Prevalence and severity of proteinuria, baseline eGFR <60 ml/min/1.73 m2 and hypertension were associated with more rapid loss of eGFR. Advanced Fabry nephropathy was more prevalent and occurred earlier among males than females. Cardiac events (mainly arrhythmias), strokes and transient ischaemic attacks occurred in 49, 11, 6% of males, and in 35, 8, 4% of females, respectively. The mean age at death for 20 male patients was 49.9 years.
Conclusions. Baseline proteinuria, reduced baseline eGFR, hypertension and male gender were associated with more rapid progression of Fabry nephropathy. The eGFR progression rate may increase with advancing nephropathy, and may differ between subgroups of patients with Fabry disease.
Keywords: albuminuria; arrhythmia; Fabry disease; nephropathy; proteinuria; stroke
The original version was incorrect. An author name has been adjusted.
* Current address: Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX, USA.
** Current address: Department of Pediatrics, Columbia University School of Medicine, New York, NY, USA.
Received for publication: 27.10.08
Accepted in revised form: 15. 1.09
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