J Korean Soc Pediatr Nephrol > Volume 12(1); 2008 > Article
J Korean Soc Pediatr Nephrol 2008;12(1): 111-115. doi: https://doi.org/10.3339/jkspn.2008.12.1.111
일측성 신장 무형성을 동반한 제 1형 비타민 D 의존성 구룻병 1례
임동희, 정지인, 임형은, 은백린, 유기환, 홍영숙, 이주원
1고려대학교 의과대학 소아과학교실
2고려대학교 의과대학 소아과학교실
3고려대학교 의과대학 소아과학교실
4고려대학교 의과대학 소아과학교실
5고려대학교 의과대학 소아과학교실
6고려대학교 의과대학 소아과학교실
7고려대학교 의과대학 소아과학교실
A Case of Type I Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney
Dong-Hee Lim, Ji-In Jung, Hyung-Eun Yim, Baik-Lin Eun, Kee-Hwan Yoo, Young-Sook Hong, Joo-Won Lee
1Department of Pediatrics, College of Medicine, Korea University
2Department of Pediatrics, College of Medicine, Korea University
3Department of Pediatrics, College of Medicine, Korea University
4Department of Pediatrics, College of Medicine, Korea University
5Department of Pediatrics, College of Medicine, Korea University
6Department of Pediatrics, College of Medicine, Korea University
7Department of Pediatrics, College of Medicine, Korea University
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ABSTRACT
Vitamin D-dependent rickets(VDDR) is a rare autosomal disorder, characterized by hypocalcemia, hypophosphatemia, increased alkaline phosphatase, secondary hyperparathyroidism and many other clinical features. Type I VDDR is due to congenital defects of renal 1${alpha}$-hydroxylase, the enzyme responsible for the conversion of 25-(OH)D3 to 1,25-$(OH)_2D3$. Type II VDDR arise from target organ resistance to 1,25-$(OH)_2D3$. Unilateral renal aplasia is generally thought to result from a lack of induction of the metanephric blastema from the ureteral bud, which may be secondary to ureteral bud maldevelopment and/or to a problem with the formation of the mesonephric duct. The incidence of unilateral renal aplasia is approximately 1/500-3,200. Type 1 VDDR associated with unilateral renal aplasia has not been reported yet. Thus we report a case of a 3 month old female infant diagnosed as type 1 VDDR with unilateral aplasia of kidney.
Key words: Vitamin D-dependent rickets | Unilateral renal aplasia

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