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KMID : 1036920140190040220
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Annals of Pediatric Endocrinology & Metabolism
2014 Volume.19 No. 4 p.220 ~ p.224
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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
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Kim Myo-Jing
Kim Young-Eun
Ki Chang-Seok
Yoo Jae-Ho
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Abstract
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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.
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KEYWORD
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Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) protein , Human
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