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Journal of the Korean Society of Pediatric Nephrology 1998;2(1): 82-85.
일차성 Fanconi 증후군 1례
강현호, 차성호, 조병수
1경희대학교 의과대학 소아과학교실
2경희대학교 의과대학 소아과학교실
3경희대학교 의과대학 소아과학교실
A Case of Primary Fanconi Syndrome
Hyeon-Ho Kang, Seong-Ho Cha, Byung-Soo Cho
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.
Key words: Fanconi syndrome | Rickets
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