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.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Raquitismo
/
Anormalidades Congênitas
/
Ureter
/
Anormalidades Urogenitais
/
Vitaminas
/
Ductos Mesonéfricos
/
Incidência
/
Hipofosfatemia
/
Fosfatase Alcalina
/
Hiperparatireoidismo Secundário
Tipo de estudo:
Estudo de incidência
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Coreano
Revista:
Journal of the Korean Society of Pediatric Nephrology
Ano de publicação:
2008
Tipo de documento:
Artigo
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