Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family
Annals of Pediatric Endocrinology & Metabolism
;
: 220-224, 2014.
Article
in English
| WPRIM
| ID: wpr-195536
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polyuria
/
Arginine Vasopressin
/
Family Characteristics
/
Exons
/
Mutation, Missense
/
Diabetes Insipidus, Neurogenic
/
Polydipsia
/
Korea
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2014
Type:
Article
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