Fanconi's syndrome

(Guido Fanconi, 1892 - 1979, Swiss paediatrician), rare disorder involving proximal renal tubular malfunction. Clinical features include proteinuria, glycosuria, phosphaturia and amino aciduria. It causes a proximal renal tubular acidosis. In its primary form it is seen as both an autosomal dominant and autosomal recessive condition. The condition can also been seen secondary to inherited or acquired disease such as tubular toxicosis (heavy metals) proteinuric states or interstitial nephritis. Imaging has very little part to play in the diagnosis of this condition.

DWP