Autosomal dominant Fanconi syndrome with early renal failure

Am J Med Genet. 1978;2(3):225-32. doi: 10.1002/ajmg.1320020303.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Amino Acids / urine
  • Child
  • Child, Preschool
  • Fanconi Syndrome / complications
  • Fanconi Syndrome / genetics*
  • Female
  • Follow-Up Studies
  • Genes, Dominant*
  • Humans
  • Kidney Failure, Chronic / complications
  • Kidney Failure, Chronic / genetics*
  • Male
  • Pedigree
  • Time Factors

Substances

  • Amino Acids