Moving Points in Nephrology: Moving Points in NephrologyDialysis and Transplantation in Fabry Disease Indications for Enzyme Replacement TherapyMignani, Renzo*; Feriozzi, Sandro†; Schaefer, Roland M.‡; Breunig, Frank§; Oliveira, João Paulo∥; Ruggenenti, Piero¶; Sunder-Plassmann, Gere** Author Information *Department of Nephrology and Dialysis, Infermi Hospital, Rimini, Italy; †Department of Nephrology and Dialysis, Belcolle Hospital, Viterbo, Italy; ‡Department of Internal Medicine D, University of Muenster, Muenster, Germany; §Department of Internal Medicine I, University of Würzburg, Würzburg, Germany; ∥Departments of Nephrology and of Human Genetics, Hospital São João and University of Porto, Porto, Portugal; ¶Department of Renal Medicine, Clinical Research Center for Rare Diseases “Aldo & Cele Daccò,” Mario Negri Institute, Bergamo, Italy and Unit of Nephrology, Azienda Ospedaliera “Ospedali Riuniti di Bergamo,” Bergamo, Italy; and **Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria Correspondence: Dr. Gere Sunder-Plassmann, Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Währinger Gürtel 18–20, A-1090 Vienna, Austria. Phone:+43-1-40400-4217; Fax:+43-1-40400-4392; E-mail: [email protected] Clinical Journal of the American Society of Nephrology 5(2):p 379-385, February 2010. | DOI: 10.2215/CJN.05570809 Buy Metrics Abstract ESRD is a major cause of morbidity and premature mortality in Fabry disease, particularly in classically affected males. The decline of renal function in Fabry nephropathy is adversely affected by male gender, advanced chronic kidney disease (CKD), and severe proteinuria. The diagnosis of Fabry nephropathy may be missed if not specifically addressed in progressive CKD and patients have been first identified in screening programs of dialysis patients. Fabry patients have worse 3-year survival rates on dialysis as compared with nondiabetic controls. The 5-year survival rate of transplanted Fabry patients is also lower than that of controls. However, because Fabry nephropathy does not recur in the allograft and transplanted Fabry patients appear to have better overall outcomes than those maintained on dialysis, kidney transplantation should be recommended as a first choice in renal replacement therapy (RRT) for Fabry disease. Appropriately designed and powered studies are not available to answer the question whether enzyme replacement therapy (ERT) influences outcomes, the course of cardiomyopathy, events, or survival in Fabry patients on RRT. The authors are not aware of compelling indications for ERT in RRT patients because progression of cardiomyopathy was documented during ERT. Whether the excess mortality risk of Fabry patients on RRT can be prevented by ERT is unknown. Despite observational reports of symptomatic improvement, the available evidence supporting ERT for such patients is not compelling enough. To clarify this issue, studies are needed to test the effectiveness of agalsidases in preventing cardiac and cerebrovascular complications in Fabry patients with ESRD. Copyright © 2010 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.