Long-Term Survival of Patients with Renal Transplantation in Fabry�s Disease

Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: A pilot study

“…However, the a-Gal-A activity of the allograft appears to be insufficient to appreciably increase the absent or very low native systemic enzyme concentration [7,8,21]. Thus, general opinion holds that the allograft alters neither the systemic substrate deposition nor the progression of important systemic complications of Fabry disease [3], and our patients' cases support this opinion.…”

“…In patients with Fabry disease, the successfully engrafted kidney from a nonaffected donor generally possesses sufficient a-Gal-A activity to prevent renal storage of Gb 3 and even to improve some extra-renal symptoms such as pain, hypohydrosis, and acroparesthesia [7,8,10,21]. The absence of glycosphingolipid accumulation in the allograft, and, in particular, tubular cells, probably explains the undetectability of Gb 3 in our patients' urine.…”

“…Kidney transplantation successfully corrects Fabry renal failure, resulting in a good graft and patient survival [7][8][9][10][11]. Nevertheless, despite the normalization of renal function after transplantation, serious aspects of Fabry disease, such as myocardial involvement, sometimes persist and progress [12,13].…”

“…Nevertheless, despite the normalization of renal function after transplantation, serious aspects of Fabry disease, such as myocardial involvement, sometimes persist and progress [12,13]. Indeed, together with cerebrovascular events, late cardiologic complications comprise the main cause of the high morbidity and mortality in Fabry patients receiving renal replacement [8,9,11,14,15]. Historically, treatment of Fabry disease has been nonspecific and palliative [14][15][16].…”

Fabry disease: Kidney involvement and enzyme replacement therapy

“…DR. SIAMOPOULOS: The paper you mentioned [12] along with another more recent report from the United States Renal Data System registry [60] indicate a clear benefit of transplantation in Fabry disease with excellent outcomes. Successful renal transplantation corrects renal function, and the engrafted kidneys function normally for several years in the absence of clinical signs or loss due to recurrence [60,61], although isolated GL-3 deposits have been detected histologically [62]. However, although the normal a-Gal A activity of the graft catabolizes endogenous renal glycosphingolipid substrates, the enzyme is ineffective in correcting the systemic metabolic abnormality [6].…”