Enzyme replacement therapy for Fabry disease: Morphologic and histochemical changes in the urinary sediments

Abstract Background Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity of the enzyme α-galacotsidase A. Accumulation of glycosphingolipids, especially globotriaosylceramide, leads to renal damage in Fabry disease. In patients with Fabry disease, the urinary sediment contains excreted glycosphingolipids. With enzyme replacement therapy for Fabry disease now currently available, we examined whether the urinary sediment could be used to noninvasively monitor effectiveness of enzyme replacement therapy. Methods Four male patients with hemizygous classical Fabry disease received recombinant α-galactsidase A biweekly, and urinary sediments were assessed at 3-month intervals. Results The morphologic and immunohistochemical changes in urinary sediment at 6 and 18 months suggested that accumulations of glycosphingolipids in renal tissues were cleared by enzyme replacement. Conclusion Examination of urinary sediments could serve as noninvasive monitoring of the effect of therapy in patients with Fabry disease.