Fanconi's syndrome I

An autosomal dominant disease reported in children and young adults. It may exist as an isolated nephropathy or in combination with involvement of other organs. Characteristics are polydipsia, polyuria and nuycturia. Later there is low blood glucose and high electrolyte levels, and signs of glomerular failure marked by increased urinary nitrogen and blood phosphorus. Eye symptoms are night blindness followed by progressive constriction of peripheral fields and, finally, blurred vision. Blood pressure usually normal until late stage of disease. Etiology unknown. Neurological problems may include mental retardation, seizures, and cerebellar ataxia. Death usually occur within 4-5 years of onset.

• G. Fanconi, E. Hanhart, A. von Albertini, et al:
  Die familiäre juvenile Nephronophthise.
  Helvetica Chirurgica Acta, Basel, 1951, 6: 1-49.