Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.

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.

• Authors: Myo-Jing Kim, Young-Eun Kim, Chang-Seok Ki, Jae-Ho Yoo
• Journal: Annals of pediatric endocrinology & metabolism (Ann Pediatr Endocrinol Metab) Vol. 19 Issue 4 Pg. 220-4 (Dec 2014) ISSN: 2287-1012 [Print] Korea (South)
• PMID: 25654069 (Publication Type: Journal Article)