Fanconi syndrome (toni-fanconi syndrome; amino diabetes; hypochloremic-glycosuric osteonephropathy syndrome; de toni-fanconi syndrome)

General: Autosomal recessive inheritance; hematologic manifestations mainly in young patients; in adults the syndrome resembles milkman syndrome with disorder of calcium and phosphorus metabolism; chronic organic acidosis in Fanconi syndrome due to an inborn error of protein metabolism.

Ocular: Massive retinal hemorrhage may be present secondary to blood dyscrasia; bilateral anterior uveitis.

Clinical: Ecchymoses and mucous membrane hemorrhages; skin hyperpigmentation; osteomalacia; pseudo fractures; deformities of radius and absence of thumbs; hypophosphatemia.

Boniuk M, Hill LL. Ocular manifestations of the Toni-Fanconi syndrome with cystine storage disease. South Med J 1966; 59:33.

Fanconi G. Die Nicht Diabetischen Glykosurien und Hyperglykamien des Alteren Kindes. Jb Kinderheilkd 1931; 133: 257.

Igarashi T, et al. Acute tubulointerstitial nephritis with uveitis syndrome presenting as multiple tubular dysfunction including Fanconi's syndrome. Pediatr Nephrol 1992; 6:547-549.