NDT Advance Access published online on October 21, 2009
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfp554
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry
1 Unidad de Dialisis, Fundación Jiménez Díaz, Universidad Autonoma de Madrid, Madrid, Spain 2 Department of Nephrology, University Federico II, Naples, Italy 3 Biomedical Data Sciences and Informatics, Genzyme Corporation, Cambridge, MA, USA 4 University of Versailles-Saint Quentin en Yvelines, Hôpital Raymond Poincaré, Garches, France 5 Department of Nephrology and Dialysis, Infermi Hospital, Rimini, Italy 6 Departments of Nephrology and Human Genetics, Faculty of Medicine, Hospital São João, Porto, Portugal 7 Central University of Venezuela, Luis Razetti School of Medicine, Department of Physiology, Caracas, Venezuela 8 Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia 9 Salford Royal NHS Foundation Trust, Manchester M6 8HD, UK 10 Division of Nephrology, Department of Medicine, University of Würzburg, Würzburg, Germany 11 Division of Nephrology, University of Alabama at Birmingham, Birmingham, AL, USA
Correspondence and offprint requests to: Correspondence and offprint requests to: Alberto Ortiz; E-mail: aortiz{at}fjd.es
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Abstract |
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Background. Fabry disease, an X-linked lysosomal storage disorder caused by deficiency of 
-galactosidase activity, is associated with progressive loss of kidney function. This study was undertaken to characterize Fabry disease among patients who reached end-stage renal disease.
Methods. Data from 2712 patients in the Fabry Registry were analysed to identify clinical characteristics of patients who received renal replacement therapy (RRT) during the natural history period (i.e. prior to any enzyme replacement therapy).
Results. A total of 213 patients [186 of 1359 males (14%) and 27 of 1353 females (2%)] received RRT at a median age of 38 years in both males and females. Males who received RRT were diagnosed at a median age of 35 years, compared to 23 years for non-RRT males. Sixty-one males and 10 females were not diagnosed with Fabry disease until after they had received RRT. Compared to other Fabry Registry patients, a higher percentage of RRT patients also experienced either a serious cardiovascular event or a stroke. Ninety-two of 186 males who had RRT (50%) experienced a cardiac event or stroke, compared to 230 of 1173 non-RRT males (20%). Ten of 27 RRT females (37%) had experienced a cardiac event or stroke, compared to 226 of 1326 non-RRT females (17%). Patients who had RRT experienced cardiovascular events and strokes at earlier ages than did patients who had not received RRT, and most received RRT before having a cardiac event or stroke.
Conclusions. While all Fabry patients are at risk of cardiovascular events and strokes, patients with Fabry nephropathy who develop kidney failure appear to have concurrent involvement of other major organ systems. It is important that Fabry patients are diagnosed early and that their renal function is monitored carefully.
Keywords: chronic kidney disease; Fabry disease; genetic renal disease; kidney transplantation
Received for publication: 2. 6.09
Accepted in revised form: 23. 9.09