Natural history and treatment of uremia secondary to Fabry's disease: an European experience.

Fabry's disease, a very unusual cause of end-stage renal disease, is actually included in the contraindications to renal transplantation. The few published studies, based on very few patients, report a high rate of life-threatening complications, mostly infectious, following kidney transplant in these patients. We have evaluated retrospectively 12 uremic patients in renal function replacement treatment for Fabry's disease. In transplanted patients (n = 8; whole observation period 241 months), no lethal complication was ever recorded. Fever and acroparesthesias ameliorated. Cardio- and cerebrovascular complications did not progress. Although no increase in serum enzymatic activity was measured, renal transplantation provided an alternative route by excretion of an amount of the metabolic product (ceramide-trihexoside). When undergoing maintenance hemodialysis (whole observation period 291 months), 3 deaths and several cardiac and cerebral complications occurred. Angiokeratomas, fever and pains were unmodified. These data disagree with what has been previously stated. The transplanted patients' survival shifts towards the all-time rate and a satisfying rehabilitation is provided. Fabry's disease should not be considered a high-risk disease; and patients suffering from it should decidedly enter a regular transplantation program.