A familial case of mitochondrial disease resembling Alport syndrome

Clinical and Experimental Nephrology
Hayahiko FujiiSei Sasaki

Abstract

A 38-year-old man with mild sensorineural hearing loss, diabetes mellitus, proteinuria, and slight renal dysfunction was admitted to our hospital for a renal biopsy to determine the cause of kidney disease. His elder sister and mother also had sensorineural hearing loss and renal failure, suggesting the existence of a common genetic disease in this family. Although the clinical features of the patient were similar to features of Alport syndrome, renal biopsy revealed no sign of Alport syndrome. We next considered a possibility of a mitochondrial kidney disease described by Jansen in 1997. Indeed, genetic analysis of mitochondrial DNA clarified the existence of A3243G mutation in the patient and his sister. This syndrome should be recognized by nephrologists as a differential diagnosis of Alport syndrome, diabetic nephropathy, and primary glomerular diseases.

References

Jul 1, 1997·Journal of the American Society of Nephrology : JASN·J J JansenH H Lemkes
Mar 5, 2002·Diabetic Medicine : a Journal of the British Diabetic Association·J C AlcoladoR Gill-Randall
Jul 13, 2002·American Journal of Medical Genetics·J Antonie Maassen

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Citations

Nov 9, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Kristin E D'AcoNeal Sondheimer
Sep 11, 2014·Kidney International·Andrew M HallMichael G Hanna
Nov 3, 2009·The Journal of Pathology·Amy J McKnightAlexander P Maxwell

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