Nephrogenic diabetes insipidus due to a novel AVPR2 mutation.
J Pediatr Endocrinol Metab
; 22(2): 187-9, 2009 Feb.
Article
em En
| MEDLINE
| ID: mdl-19449677
ABSTRACT
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease characterized by renal tubular unresponsiveness to the antidiuretic effect of arginine-vasopressin due to the mutations of two molecules, the vasopressin V2 receptor (AVPR2) and the aquasporin-2 water channel. We report a novel AVPR2 mutation in a Turkish 18 month-old boy with skeletal anomalies.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Receptores de Vasopressinas
/
Diabetes Insípido Nefrogênico
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Assunto da revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Turquia