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

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 1α-hydroxylase the enzyme responsible for the conversion of 25-(OHD3 to 125-(OH2D3. Type II VDDR arise from target organ resistance to 125-(OH2D3. 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 1/500-3200. 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. (J Korean Soc Pediatr Nephrol 2008;12:111-115