Abstract
A 23-year-old woman with idiopathic Fanconi syndrome without cystinosis was described. Her parents were healthy but consanguineous. When she was 9-year-old, the diagnosis of acute glome-rulonephritis was made because of her edema and proteinuria. Addition to proteinuria, renal glycosuria, hypokalemia, and metabolic acidosis were detected next year. Bone pain and arthralgia abrupted when she was 21-year old. She visited to our hospital complaining of arthralgia of hip, knee and ankle joints and bone pain of ribs, then was admitted on July 1978. She was a small lady. Pigeon chest, mild anemia and enlarged spleen were noticed. Laboratory examination revealed mild anemia, hypokalemia, hyperchloremia, hypophosphatemia, hypouricemia, renal glycosuria, proteinuria, increased serum alkaline phosphatase level and urine beta2-microglobulin excretion and metabolic acidosis. In renal function GFR, %TRP, Tm-PAH, Tm-G were decreased and phosphate clearance, uric acid clearance and filtration fraction were increased. Fishberg concentration test and acidification test of Elkinton modification were impaired. Roentogenological examination of bones represented demineralization and pseudofractures which formulated osteomalacia. Amino acid analysis showed her severe pan-aminoaciduria and mild aminoaciduria of her parents and brother. Cystinosis and another diorders which caused secondary Fanconi syndrome were not disclosed.
