The Kidney in Fabry Disease

Fabry disease is a rare cause of end-stage renal disease. Renal pathology is notable for diffuse deposition of glycosphingolipid in the renal glomeruli, tubules, and vasculature. Classical patients with mutations in the a-galactosidase A gene accumulate globotriaosylceramide and become symptomatic in childhood with pain, gastrointestinal disturbances, angiokeratoma, and hypohidrosis. Classical patients experience progressive loss of renal function and hypertrophic cardiomyopathy, with severe clinical events including end-stage renal disease, stroke, arrhythmias, and premature death. The pathophysiological mechanisms by which endothelial cells, podocytes, smooth muscle cells, and tubular dysfunction occur in Fabry disease are poorly characterized and understood. This review evaluates the new evidence in pathophysiology of Fabry nephropathy, highlighting the necessity of early identification of individuals with Fabry disease.