Burning feet, dilated heart and failed kidneys

Abstract

Fabry's disease, X-linked lysosomal storage disease, results from deficient activity of alpha galactosidaseA (α-GalA). Renal manifestation usually begins at third decade of life. We report a 16 year male with initial presentation with end stage renal disease (ESRD) andthe diagnosis confirmed by presence of myeloid bodies on electron microscopy of kidney biopsy and low serum α-GalA level.