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.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Raquitismo
/
Anomalías Congénitas
/
Uréter
/
Anomalías Urogenitales
/
Vitaminas
/
Conductos Mesonéfricos
/
Incidencia
/
Hipofosfatemia
/
Fosfatasa Alcalina
/
Hiperparatiroidismo Secundario
Tipo de estudio:
Estudio de incidencia
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Coreano
Revista:
Journal of the Korean Society of Pediatric Nephrology
Año:
2008
Tipo del documento:
Artículo
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