Nephropathy associated with Charcot-Marie-Tooth disease.
In this report, we describe a case of 14-year-old girl with Charcot-Marie-Tooth (CMT) disease and the nephropathy which was characterized by heavy proteinuria and microscopic hematuria. She progressed to renal failure with clinical duration of 4 years from the onset of disease. Renal biopsy specimens revealed the features of focal segmental glomerulosclerosis (FSGS). The patient has also a bilateral sensorineural deafness. Although the clinical features show similarities to those of the Alport syndrome, electron microscopic examination did not disclose the glomerular basement membrane changes which were characteristic of the Alport syndrome. The association of nephropathy with CMT disease is discussed, as compared with previous report.
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D005260:Female; D006417:Hematuria / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications*; D011507:Proteinuria / Q000150:complications* / Q000175:diagnosis / Q000473:pathology