The ultrastructural changes in renal biopsy compatible with Fabry's disease. Case report

The authors reported the accumulation of osmiophilic myelin-like bodies typical for Fabry's disease in the rebiopsied 19-year-old woman clinically presenting with intermittent mild microhematuria and trace proteinuria. The light microscopy examination of the first kidney biopsy specimen (10 years ago) showed the presence of vacuolated cells in glomeruli, but electron microscopy study was not performed. The family history was negative for renal diseases. A biochemical enzymatic assay for alpha-galactosidase A was not performed. It is concluded that electron microscopy examination of kidney biopsy specimen is important for the investigation of storage diseases.