A Case of Type I Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney

Lim, Dong-Hee; Jung, Ji-In; Yim, Hyung-Eun; Eun, Baik-Lin; Yoo, Kee-Hwan; Hong, Young-Sook; Lee, Joo-Won

doi:2008.12.1.111

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

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