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Clinical Study of Hypophosphatemic Rickets.

Journal of the Korean Pediatric Society 1989;32(8):1057-1063.
Published online August 31, 1989.
Clinical Study of Hypophosphatemic Rickets.
Seok Min Choi1, Duk Hi Kim1, Chin Suck Suh2
1Department of Pediatrics, College of Medicine, Yonsei University, Seoul, Korea
2Department of Radiology, College of Medicine, Yonsei University, Seoul, Korea
저인산성 구루병에 관한 임상적 고찰
최석민1, 김덕희1, 서진석2
1연세대학교 의과대학 소아과학교실
2연세대학교 의과대학 방사선과학교실
Received: 10 March 1989   • Accepted: 10 March 1989
Hypophosphatemic rickets is a disorder characterized by a normal or slightly reduced serum calcium level, a moderately reduced serum phosphorus level and elevated alkaline phosphatase activity. The usual mode of inheritance is X-linked dominant and postulated mechanism is a selective disorder of tubular reabsorption of phosphate, defective conversion of 21-hydroxyvitamin D3 to calcitriol and increased catabolism of calcitriol. In children with renal hypophosphatemic rickets, growth failure is the clinical feature of major concern and the diagnosis is usually made only after significant growth retardation and bone deformity are evident. The combined administration of calcitriol and phosphate is currently the best and the most accepted treatment for renal hypophosphatemic rickets. We experienced 8 cases of hypophosphatemic rickets and report with a brief review of literatures.
Key Words: Hypophosphatemic Rickets

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