title: Cystinosis with Fanconi's syndrome. A case report.
abstract: A 19-year-old girl suffering from the nephropathic form of cystinosis presented with the full clinical and biochemical picture of Fanconi's syndrome. Polyuria, polydipsia and photophobia associated with severe growth retardation and rickets were the main clinical features. The essential biochemical abnormalities consisted of hypophosphataemia, hypokalaemia and hypo-uricaemia together with a systemic acidosis and a reduced creatinine clearance rate. There was generalized amino-aciduria, glycosuria and bicarbonaturia. In addition, the fractional excretion of potassium, phosphate and uric acid was significantly increased. Slit-lamp examination of the cornea and histological examination of the conjuctiva, liver, bone marrow and kidney demonstrated cystine crystals.
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications; D000328:Adult; D003554:Cystinosis / Q000150:complications* / Q000188:drug therapy; D005198:Fanconi Syndrome / Q000097:blood / Q000150:complications* / Q000652:urine; D005260:Female; D006801:Humans; D007008:Hypokalemia / Q000150:complications; D008027:Light