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
en Ko
| WPRIM
| ID: wpr-175595
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Raquitismo
/
Anomalías Congénitas
/
Uréter
/
Anomalías Urogenitales
/
Vitaminas
/
Conductos Mesonéfricos
/
Incidencia
/
Hipofosfatemia
/
Fosfatasa Alcalina
/
Hiperparatiroidismo Secundario
Tipo de estudio:
Incidence_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
Ko
Revista:
Journal of the Korean Society of Pediatric Nephrology
Año:
2008
Tipo del documento:
Article