Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.

Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelial cells on biopsy, with electron microscopy showing inclusions within the cytoplasm of multiple podocytes consistent with Fabry disease.