Kidney Transplant in Fabry Disease: A Revision of the Literature
Irene Capelli,
Valeria Aiello,
Lorenzo Gasperoni,
Giorgia Comai,
Valeria Corradetti,
Matteo Ravaioli,
Elena Biagini,
Claudio Graziano,
Gaetano La Manna
Affiliations
Irene Capelli
Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
Valeria Aiello
Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
Lorenzo Gasperoni
Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
Giorgia Comai
Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
Valeria Corradetti
Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
Matteo Ravaioli
Department of General Surgery and Transplantation, S. Orsola—Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
Elena Biagini
Institute of Cardiology, Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, S. Orsola-Malpighi University Hospital, 40138 Bologna, Italy
Claudio Graziano
Unit of Medical Genetics, S. Orsola-Malpighi Hospital, 40138 Bologna, Italy
Gaetano La Manna
Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy
Fabry disease is classified as a rare X-linked disease caused by a complete or partial defect of enzyme alpha-galactosidase, due to GLA gene mutations. This disorder leads to intracellular globotriaosylceramide (Gb3) deposition associated with increased Gb3 plasma levels. Most of the symptoms of the disease, involving kidneys, heart and nervous system, result from this progressive Gb3 deposition. The incidence is estimated in 1/50,000 to 1/117,000 in males. Fabry nephropathy begins with microalbuminuria and/or proteinuria, which, in the classic form, appear from childhood. Thus, a progressive decline of renal function can start at a young age, and evolve to kidney failure, requiring dialysis or renal transplantation. Enzyme replacement therapy (ERT), available since 2001 for Fabry disease, has been increasingly introduced into the clinical practice, with overall positive short-term and long-term effects in terms of ventricular hypertrophy and renal function. Kidney transplantation represents a relevant therapeutic option for Fabry nephropathy management, for patients reaching end-stage renal disease, but little is known about long-term outcomes, overall patient survival or the possible role of ERT after transplant. The purpose of this review is to analyze the literature on every aspect related to kidney transplantation in patients with Fabry nephropathy: from the analysis of transplant outcomes, to the likelihood of disease recurrence, up to the effects of ERT and its possible interference with immunosuppression.
