[Results of enzyme replacement therapy in Fabry disease nephropathy]

Kidney involvement in Fabry disease is frequent and severe since it leads to terminal renal failure in the fifth decode. Enzyme replacement therapy was evaluated on kidney function in two phase III trials, each performed with one of the two enzymes available (agalsidase beta and agalsidase alpha). A phase IV trial was also conducted with agalsidase beta. Results of those three clinical trials were consistent, evidencing stabilization of renal function and clearance of the sphingolipid deposits in most of the kidney cells. Enzyme replacement therapy should be given early since among patients with kidney failure, it appeared to be less efficient.