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KMID : 0811820080120010111
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Journal of Korean Society of Pediatric Nephrology
2008 Volume.12 No. 1 p.111 ~ p.115
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A Case of Type Ⅰ Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney
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Lim Dong-Hee
Lee Joo-Won
Eun Baik-Lin
Jung Ji-In
Yim Hyung-Eun
Yoo Kee-Hwan
Hong Young-Sook
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Abstract
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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-hydroxylase, the enzyme responsible for the conversion of 25-(OH)D3 to 1,25-. Type II VDDR arise from target organ resistance to 1,25-. 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.
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KEYWORD
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Vitamin D-dependent Rickets, Unilateral Renal Aplasia
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