Fanconi syndrome and anesthesia

Abstract

Fanconi syndrome was first described by Lignac in 1924 and better defined by Fanconi in 1936. The syndrome results from a disturbance of proximal renal tubular function causing generalized hyperaminoaciduria, glucosuria, and hyperphosphaturia, as well as renal loss of potassium, bicarbonate, water, and other substances normally conserved by the proximal tubule. Fanconi syndrome can be acquired or inherited. In its acquired form, it is associated with cystinosis, Wilson's disease, galactosemia, myeloma, exogenous toxins such as outdated tetracyclines, amyloidosis, and several other conditions. When inherited, it is transmitted as an autosomal recessive trait in about one in 40,000 births. Symptoms and signs reflect the tubular abnormality and include polyuria, polydipsia, acidosis due to bicarbonate loss, and muscular weakness related to hypokalemia. Dwarfing with osteomalacia reflecting phosphate wasting and presenting as vitamin D-resistant rickets is a prominent clinical finding. Severe photophobia occurs with cystinosis.