A 16-year-old Japanese girl was admitted to our hospital on February 27, 2001, for
acute renal failure. She had not shown
proteinuria or
hematuria in any school examination through 2000. The first renal biopsy specimen showed
focal segmental glomerulosclerosis and tubulointerstitial change. Electron microscopy showed numerous myeloid bodies in the glomerular epithelium suggesting the diagnosis of
Anderson-Fabry disease. After electron microscopy, we measured WBC
alpha-galactosidase A, which was slightly decreased to 36.1 nmol/mg P/h (normal: 49.8 - 116.4). WBC
alpha-galactosidase A levels for other family members were 74.3 for the mother, 4.8 for the father, 45.6 for the elder sister, and 16.3 for the younger sister. During the follow-up, she had two episodes of
nephrotic syndrome, which responded well to
steroid therapy. Both second and third renal biopsy showed numerous myeloid bodies by electron microscopy. A 52-year-old man, the father of the case one patient, was admitted for renal biopsy because of
proteinuria and low levels of WBC
alpha-galactosidase. Biopsy specimen showed typical changes under light microscopy and typical myeloid bodies by electron microscopy. Our cases underscore the importance of electron microscopy when examining the biopsy specimen and suggest that undiagnosed
Anderson-Fabry disease may be present, in particular on chronic dialysis.