Renal manifestations in Fabry disease and therapeutic options

摘要: Fabry disease is an X-linked lysosomal storage disorder that affects both sexes. Progressive cellular accumulation of glycolipids starts early in life and, if untreated, eventually leads to organ failure and premature death. The nephropathy characterized by initial proteinuria the second third decades life, development structural changes including glomerular sclerosis, tubular atrophy, interstitial fibrosis. kidney develops at a comparable rate as diabetic nephropathy. First signs damage may arise childhood, prior first overt renal dysfunction underscoring key importance recognition diagnosis. Globotriaosylceramide (GL-3) deposition probably initiating factor pathology with enzyme replacement therapy (ERT), clearance can be achieved several cell types. However, some late-stage effects are not reversible. As there growing evidence outcomes more directly related degree fibrosis scarring, preventing these irreversible initiation ERT have greatest impact on outcomes. Proteinuria should rigorously monitored aggressively treated antiproteinuric therapy. This review describes clinical features histological changes, outline options for therapeutic intervention offer best hope patients affected this life-threatening disorder.