Diagnosis and management of nephropathy in Fabry disease

Abstract

Nephropathy is a life-threatening aspect of Fabry disease. The signs and symptoms start in childhood and adolescence with albuminuria and proteinuria. If not treated, patients with renal involvement progress to chronic renal failure and rapidly to end-stage renal disease necessitating dialysis or kidney transplant. The early start of enzyme replacement therapy has proved effective in reducing GL3 deposits in renal cells and reversing albuminuria and proteinuria, thereby stabilizing renal function. Instead, delayed introduction of agalsidase therapy fails to decrease proteinuria and to arrest the progression of renal failure towards end-stage renal disease. We propose guidelines and recommendations for the diagnosis and management of Fabry nephropathy in adults based on the consensus of opinion of the participants in the International Fabry Nephropathy Roundtable of 2007 and the KDIGO consensus conference of 2015.