Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The nephrotoxicity of gentamicin is associated with formation of myelin figures within the proximal convoluted tubules of experimental animals and man. By electron microscopy, the authors studied urinary sediments of patients who were treated with gentamicin to detect the occurrence of myelin figures. All three patients who had renal impairment and were treated with gentamicin had numerous urinary myelin figures. By contrast, myelin figures were not observed in urinary sediments of four patients who had no renal impairment despite gentamicin therapy, or nine patients who had no renal impairment and did not receive gentamicin therapy. Occasional myelin figures were detected in a urinary sediment of one of eight patients who had renal impairment and no gentamicin therapy. When the urinary sediments of patients who had gentamicin nephrotoxicity were compared with those of patients with Fabry disease, morphologic differences between the myelin figures of the two groups were detected. The study demonstrates the presence of myelin figures in urines of patients with acute renal failure receiving gentamicin, and suggests that the finding of these myelin figures within urine samples may contribute to the diagnosis of gentamicin-induced nephrotoxicity.
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PMID:Urinary myelin figures in gentamicin nephrotoxicity. 11 12

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.
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PMID:Two unusual cases of Anderson-Fabry disease in a Japanese family. 1590