Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
Annals of Pediatric Endocrinology & Metabolism
;
: 220-224, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-195536
ABSTRACT
Autosomal dominant neurohypophyseal diabetes insipidus is a rare form of central diabetes insipidus that is caused by mutations in the vasopressin-neurophysin II (AVP-NPII) gene. It is characterized by persistent polydipsia and polyuria induced by deficient or absent secretion of arginine vasopressin (AVP). Here we report a case of familial neurohypophyseal diabetes insipidus in four generations of a Korean family, caused by heterozygous missense mutation in exon 2 of the AVP-NPII gene (c.286G>T). This is the first report of such a case in Korea.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Poliúria
/
Arginina Vasopressina
/
Características da Família
/
Éxons
/
Mutação de Sentido Incorreto
/
Diabetes Insípido Neurogênico
/
Polidipsia
/
Coreia (Geográfico)
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2014
Tipo de documento:
Artigo
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