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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