A Case of Type I Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney.
- Author:
Dong Hee LIM
1
;
Ji In JUNG
;
Hyung Eun YIM
;
Baik Lin EUN
;
Kee Hwan YOO
;
Young Sook HONG
;
Joo Won LEE
Author Information
1. Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea. guroped@korea.ac.kr
- Publication Type:Case Report
- Keywords:
Vitamin D-dependent rickets;
Unilateral renal aplasia
- MeSH:
Alkaline Phosphatase;
Congenital Abnormalities;
Female;
Humans;
Hyperparathyroidism, Secondary;
Hypocalcemia;
Hypophosphatemia;
Incidence;
Infant;
Kidney;
Rickets;
Ureter;
Urogenital Abnormalities;
Vitamins;
Wolffian Ducts
- From:Journal of the Korean Society of Pediatric Nephrology
2008;12(1):111-115
- CountryRepublic of Korea
- Language:Korean
-
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 1alpha-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.
