The adult presenting idiopathic Fanconi syndrome

J Inherit Metab Dis. 1981;4(4):211-5. doi: 10.1007/BF02263654.


The adult presenting Fanconi syndrome is a rare familial disorder. A 30-year follow-up of one of the original families in the literature is reported here. Two important points have emerged. Firstly, the inheritance in this family is dominant, not recessive as originally suggested, and there remains no good example in the literature of a recessive inheritance of this disorder. Second, in this family lactic aciduria and tubular proteinuria are probably the earliest manifestations of the disorder in childhood, with glycosuria and aminoaciduria developing in the second decade and osteomalacia from the start of the fourth decade. Glomerular function deteriorates slowly but is compatible with a normal lifespan.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amino Acids / blood
  • Amino Acids / urine
  • Blood Chemical Analysis
  • Child
  • Fanconi Syndrome / genetics*
  • Fanconi Syndrome / metabolism
  • Female
  • Humans
  • Male
  • Middle Aged
  • Pedigree


  • Amino Acids