NDT Advance Access originally published online on December 5, 2007
Nephrology Dialysis Transplantation 2008 23(5):1628-1635; doi:10.1093/ndt/gfm813
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Agalsidase therapy in patients with Fabry disease on renal replacement therapy: a nationwide study in Italy
1 Department of Nephrology and Dialysis, Infermi Hospital Rimini 2 Belcolle Hospital Viterbo 3 Umberto II, University Hospital Napoli 4 Hospital Livorno 5 S.Chiara Hospital Trento 6 SS Annunziata Hospital Sassari 7 Hospital Voghera 8 Bufalini Hospital Cesena 9 Riuniti Hospital Bergamo 10 Hospital Bari 11 University Hospital Padova 12 Careggi University Hospital Firenze 13 University Hospital Trieste 14 S.Chiara University Hospital Pisa 15 Riuniti Hospital Foggia 16 SS Trinità Hospital Borgomanero 17 Hospital Ciriè 18 S.Maria Nuova Hospital Reggio Emilia 19 Cardiology Unit Umberto II, University Hospital Napoli 20 S.Gerardo Hospital Monza 21 Department of Transplant, University Hospital Catania, Italy
Correspondence and offprint requests to: Renzo Mignani, Department of Nephrology and Dialysis, Infermi Hospital, via Settembrini 2, 47900 Rimini, Italy. Tel: +39-0541-705540; Fax: +39-0541-705288; E-mail: rmignani{at}auslrn.net
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Abstract |
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Background. In Fabry disease, end-stage renal disease (ESRD) and severe neurologic and cardiac complications represent the leading causes of late morbidity and mortality. A comprehensive Italian nationwide survey study was conducted to explore changes in cardiac status and renal allograft function in Fabry patients on renal replacement therapy (RRT) and enzyme replacement therapy (ERT).
Methods. This study was designed as a cross-sectional survey study with prospective follow-up. Of the 34 patients identified via searches in registries, 31 males and 2 females who received RRT and ERT (agalsidase beta in 30 patients, agalsidase alpha in 3) were included. Left ventricular mass index (LVMI), interventricular septal thickness at end diastole (IVSD), left ventricular posterior wall thickness (LVPWT) and renal allograft function were assessed at ERT baseline and subsequently at yearly intervals.
Results. The patients in the dialysis and transplant groups had been started on dialysis at age 42.0 and 37.1 years (mean), respectively, and patients in the transplant group received their renal allograft at age 39.8 years (mean). The mean age at the start of ERT was similar, 44.1 and 44.6 years, respectively. The mean RRT follow-up was 61.1 and 110.6 months for dialysis and transplant patients, respectively, whereas the ERT duration was 45.1 and 48.4 months, respectively. Cardiac parameters increased in dialysis patients. In transplant patients, mean LVMI seemed to plateau during agalsidase therapy at a lower level as compared to baseline. Decline in renal allograft function was relatively mild (–1.92 ml/min/year). Agalsidase therapy was well tolerated. Serious ERT-unrelated events occurred more often in the dialysis group.
Conclusions. Kidney transplantation should be the standard of care for Fabry patients progressing towards ESRD. Transplanted Fabry patients on ERT may do better than patients remaining on maintenance dialysis. Larger, controlled studies in Fabry patients with ESRD will have to demonstrate if ERT is able to change the trajectory of cardiac disease and can preserve graft renal function.
Keywords: agalsidase; dialysis; end-stage renal disease; enzyme replacement therapy; Fabry disease; transplantation
Received for publication: 21. 5.07
Accepted in revised form: 17.10.07