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.
Artículo
en Inglés
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Poliuria
/
Arginina Vasopresina
/
Composición Familiar
/
Exones
/
Mutación Missense
/
Diabetes Insípida Neurogénica
/
Polidipsia
/
Corea (Geográfico)
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Pediatric Endocrinology & Metabolism
Año:
2014
Tipo del documento:
Artículo
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