1Department of Pediatrics, Kyunghee University, College of Medicine 2Department of Pediatrics, Kyunghee University, College of Medicine 3Department of Pediatrics, Kyunghee University, College of Medicine
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ABSTRACT
Fanconi syndrome is a renal disorder characterized by a generalized dysfuntion of the proximal tubule leading to excessive urinary losses of amino acids, glucose, phosphate, and bicarbonate. It is often associated with hypokalemia, hypophosphatemia, rickets, and osteomalacia. We have experienced one case of primary Fanconi syndrome. The patient was a 10 year old boy and his chief complaints were short stature, glycosuria, and genu valgum. There were aminoaciduria, hypokalemia, glycosuria, decreased TRP, and hypophosphaturia. We report a case of primary Fanconi syndrome with brief review of the literature.
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