Journal of the Korean Pediatric Society 1998;41(7):877-882.
Published online July 15, 1998.
Type I Vitamin D Dependent Rickets
Soo Ja Hwang1, Jung Soo Kim2, Hae Il Cheong2, Yong Choi2
1Department of Pediatrics, Ewha Womans University, College of Medicine, Seoul, Korea
2Department of Pediatrics, Seoul National University, College of Medicine, Seoul, Korea
제Ⅰ형 Vitamin D 의존성 구루병의 임상적 고찰
황수자1, 김정수2, 정해일2, 최용2
1이화여자대학교 의과대학 소아과학교실
2서울대학교 의과대학 소아과학교실
Hae Il Cheong, Email: 1
: Vitamin D dependent rickets(VDDR) is a rare, autosomal recessively transmitted disorder characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type Ⅰ VDDR arises from primary deficiency in the renal 1α-hydroxylase that produces 1,25(OH)2D3. So patients with type I VDDR require life long administration of vitamin D.
: There had been 6 children(4 boys and 2 girls) who were diagnosed as type I VDDR in the Department of Pediatrics, Seoul National University Children's Hospital from March 1983 to May 1997. The medical records, Clinical findings, laboratory, radiologic findings, and response to therapy of these children were analyzed retrospectively.
: The median age at diagnosis was 19.5 month, and 2 families(33.3%) had family history of rickets. The major presenting symptoms were bowing leg(100%), short stature (100%), and hypocalcemic tetany(67%). Serum levels of 1,25(OH)2D3 7.0±3.06pg/mL(normal : 20-76pg/mL), respectively. Pretreatment serum levels of calcium(6.9±1.67mg/mL), phosphate(6.9±1.67mg/mL) and alkaline phosphatase(1892±966.4IU/L) were returned to normal levels after treatment(P<0.01). The height standard deviation scores(Z scores) were increased significantly, also(P<0.01). The side effects detected during vitamin D ttherapy were hypercalcemia(33%), hypercalciuria(67%) and nephrocalcinosis(50%).
: This is the first report of type I VDDR in our country. All patients revealed the characteristic clinical, laboratory and radiologic findings, and one third of patients had positive family history. The treatment improved all the clinical, laboratory and radiologic findings significantly including growth. However, complications developed in some patients during the long- term therapy of vitamin D.
Key Words: Type I vitamin D dependent rickets

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