A Case of Primary Fanconi Syndrome

Kang, Hyeon-Ho; Cha, Seong-Ho; Cho, Byung-Soo

J Korean Soc Pediatr Nephrol > Volume 2(1); 1998 > Article

J Korean Soc Pediatr Nephrol 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

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