当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene.

Abstract：

BACKGROUND:Familial neurohypophyseal (central) diabetes insipidus (DI) is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The majority of cases is inherited in an autosomal dominant way. In this study, we present the clinical features of a mother and her son with autosomal dominant neurohypophyseal DI caused by a novel mutation. CASE:A thirty-four-year-old woman and her three-year-old son were evaluated because of polyuria and polydipsia since the age of 1.5 years onwards. Both patients were subjected to a water deprivation test confirming the diagnosis of central DI. Magnetic resonance imaging of the brain of the mother showed a hypothalamus without apparent abnormalities and a relatively small neurohypophysis without a hyperintense signal. Mutation analysis showed a c.322G>T (p.?/p.Glu108X) in Exon 2 of the AVP-NPII gene in both mother and son. DISCUSSION:This study reports neurohypophyseal DI in a mother and her son due to a novel mutation in Exon 2 of the AVP-NPII gene. Clinical and pathophysiological aspects of this disease are shortly reviewed and discussed.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

de Fost M,van Trotsenburg AS,van Santen HM,Endert E,van den Elzen C,Kamsteeg EJ,Swaab DF,Fliers E

doi

10.1530/EJE-11-0048

subject

Has Abstract

pub_date

2011-07-01 00:00:00

pages

161-5

issue

1

eissn

0804-4643

issn

1479-683X

pii

EJE-11-0048

journal_volume

165

pub_type

杂志文章

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