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Autosomal dominant Fanconi syndrome with early renal failure

✍ Scribed by Friedman, Aaron L. ;Trygstad, Carl W. ;Chesney, Russell W. ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1978
Tongue: English
Weight: 442 KB
Volume: 2
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320020303

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✦ Synopsis

Abstract

The “idiopathic” Fanconi syndrome occurs mostly sporadically, occasionally as an autosomal recessive trait. However, few instances of autosomal dominant inheritance have been reported. We described a father and son with the Fanconi syndrome, ie, with renal glycosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease. No other causes of the Fanconi syndrome were found.

Both father and son developed end stage renal disease. Aminoaciduria in excess of that seen in renal insufficiency is shown by comparison with published data for amino acid excretion in uremia. Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. This family is unique in that there are no other reports of autosomal dominant Fanconi syndrome with progression to early renal failure.

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