Hyponatremia resulting from arginine vasopressin receptor 2 gene mutation.
Pediatr Nephrol
; 22(3): 463-6, 2007 Mar.
Article
em En
| MEDLINE
| ID: mdl-17115194
Chronic hyponatremia, unless associated with extracellular fluid volume expansion, is an infrequent electrolyte imbalance in pediatrics. We report an infant with chronic hyponatremia suggestive of a syndrome of inappropriate secretion of antidiuretic hormone (SIADH), in the absence of ADH secretion. A mutation was found in the same codon of the gene that results in a loss-of- function of arginine vasopressin receptor 2 (AVPR2) observed in congenital nephrogenic diabetes insipidus. In this case, a gain-of- function of AVPR 2 was found to be responsible for a SIADH-like state.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de Vasopressinas
/
Hiponatremia
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Nephrol
Assunto da revista:
NEFROLOGIA
/
PEDIATRIA
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Argentina
País de publicação:
Alemanha