Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family.
10.6065/apem.2014.19.4.220
- Author:
Myo Jing KIM
1
;
Young Eun KIM
;
Chang Seok KI
;
Jae Ho YOO
Author Information
1. Department of Pediatrics, Dong-A University College of Medicine, Busan, Korea. pedendo@dau.ac.kr
- Publication Type:Case Report
- Keywords:
Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein;
Human
- MeSH:
Arginine Vasopressin;
Diabetes Insipidus, Neurogenic*;
Exons;
Family Characteristics*;
Humans;
Korea;
Mutation, Missense;
Polydipsia;
Polyuria
- From:Annals of Pediatric Endocrinology & Metabolism
2014;19(4):220-224
- CountryRepublic 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.
