A Case of Type I Vitamin D-dependent Rickets with Unilateral Aplasia of Kidney
Journal of the Korean Society of Pediatric Nephrology
;
: 111-115, 2008.
Article
in Korean
| WPRIM
| ID: wpr-175595
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Rickets
/
Congenital Abnormalities
/
Ureter
/
Urogenital Abnormalities
/
Vitamins
/
Wolffian Ducts
/
Incidence
/
Hypophosphatemia
/
Alkaline Phosphatase
/
Hyperparathyroidism, Secondary
Type of study:
Incidence study
/
Prognostic study
Limits:
Female
/
Humans
/
Infant
Language:
Korean
Journal:
Journal of the Korean Society of Pediatric Nephrology
Year:
2008
Type:
Article
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