Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Añadir filtros








Intervalo de año
1.
Annals of Pediatric Endocrinology & Metabolism ; : 220-224, 2014.
Artículo en Inglés | WPRIM | ID: wpr-195536

RESUMEN

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.


Asunto(s)
Humanos , Arginina Vasopresina , Diabetes Insípida Neurogénica , Exones , Composición Familiar , Corea (Geográfico) , Mutación Missense , Polidipsia , Poliuria
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA