Annals of Pediatric Endocrinology & Metabolism  2014;19(4):220-224

doi:10.6065/apem.2014.19.4.220

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

Myo Jing KIM 1 ; Young Eun KIM ; Chang Seok KI ; Jae Ho YOO

Affiliations

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Keywords

Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein; Human

Country

Republic of Korea

Language

English

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.