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Fabry disease is an X-linked lysosomal storage disorder arising from a deficiency of the enzyme alpha-galactosidase A. Affected individuals accumulate glycosphingolipids, predominantly ceramidetrihexoside, in the plasma and cellular lysosomes throughout the body. We reported case of Fabry disease, following renal biopsy for investigation of proteinuria and dizziness. The patient was 52 yearold woman who had residual alpha-galactosidase A activity as the result of a missense mutation encoding a substitution of arginine for glycine at position 137 of the enzyme (H46R). Renal biopsy findings showed that lysosomal glycosphingolipid deposition was extensive in glomerular podocytes on light microscopy and lamellated lipid inclusions on electron microscopy. Light microscopic findings of endomyocardial biopsy showed that cardiac myocytes are vacuolated showing lace-like appearance. She was being treated with alpha-galactosidase A administered by intravenous infusion without any adverse events. Enzyme replacement therapy is currently available for Fabry disease, but early diagnosis before the onset of irreversible pathology will be mandatory for successful treatment.(Korean J Med 70:S288-S293, 2006)
Key Words : Fabry disease, Alpha-Galactosidase, Proteinuria |
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