Nephrol Dial Transplant (2003) 18: 7-9
© 2003 European Renal Association-European Dialysis and Transplant Association
Editorial Comments
Enzyme replacement therapy for Fabry disease: proving the clinical benefit
Department of Medicine, Division of Nephrology, University of Würzburg, Würzburg, Germany
Keywords: clinical trial; enzyme replacement; Fabry disease; genetic disorders; lysosomal storage disease
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Introduction
Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme 
-galactosidase A (-Gal A). The lack of -Gal A leads to incomplete metabolism and progressive lysosomal accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3). This process causes damage to endothelial, perithelial and smooth-muscle cells of the vascular system, glomerular and tubular cells of the kidney, myocardial cells and valvular fibrocytes, epithelial cells of the cornea and ganglion cells of the dorsal root and autonomic nervous system, as well as cortical and brain-stem structures [1]. Therefore, the disease presents as a multi-system disorder, clinical features being typical but highly variable in affected individuals. One of the earliest and most debilitating symptoms is the onset of acroparaesthesias in childhood. Other common manifestations are lenticular and corneal opacities, angiokeratomas, hypohidrosis, oedema and abdominal pain. During the third and fourth decade of life, the disease is characterized
Therapeutic options
Enzyme replacement therapy (ERT)
Assessing the benefit: does ERT meet clinical expectations?
Future objectives
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