当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis.

Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis.

Abstract：

BACKGROUND:Activating mutations of the vasopressin receptor gene on the X chromosome cause the nephrogenic syndrome of inappropriate antidiuresis (NSIAD). We describe a male child who presented with persistent hyponatraemia and whose mother was also found to be hyponatraemic. She had learnt to avoid excess fluid consumption because of associated malaise. Both individuals had a subnormal ability to excrete a water load with mother also demonstrating a heightened sense of thirst at low serum osmolalities. RESULTS:Mother and child were found to have the previously characterised activating mutation (p.Arg137Cys) of the arginine vasopressin receptor type 2 gene (AVPR2), but had measurable levels of AVP when hyponatraemic. CONCLUSIONS:We conclude that female carriers of activating mutations of the vasopressin receptor are susceptible to hyponatraemia and therefore need to be provided with advice regarding fluid intake. An altered thirst perception may increase susceptibility to hyponatraemia. We confirm that the presence of measurable amounts of AVP in patients with hyponatraemia does not exclude the diagnosis of NSIAD.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Gupta S,Cheetham TD,Lambert HJ,Roberts C,Bourn D,Coulthard MG,Ball SG

doi

10.1530/EJE-09-0246

subject

Has Abstract

pub_date

2009-09-01 00:00:00

pages

503-8

issue

3

eissn

0804-4643

issn

1479-683X

pii

EJE-09-0246

journal_volume

161

pub_type

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