The University of Southampton
University of Southampton Institutional Repository

Clinical features, diagnosis and molecular studies of familial central diabetes insipidus

Clinical features, diagnosis and molecular studies of familial central diabetes insipidus
Clinical features, diagnosis and molecular studies of familial central diabetes insipidus
Background: Familial central diabetes insipidus (DI) is rare and is characterised by polydipsia and polyuria with a variable age of onset. The evaluation of arginine vasopressin (AVP) secretion in these individuals has been reported infrequently and only in adulthood.
Objective: To describe the clinical features, diagnosis and molecular investigation of children affected by familial central DI. Methods: Functional studies of AVP secretion were undertaken in children from two kindreds with familial central DI. The AVP-neurophysin II (AVP-NPII) gene was also sequenced in symptomatic individuals.
Results: In affected individuals, the result of the water deprivation test may be inconclusive. However, the hypertonic saline test identified both the severe and partial forms of AVP deficiency. A novel mutation of the AVP-NPII gene was identified by direct gene sequencing in both families.
Conclusions: This report highlights the progressive decline in AVP secretion with increasing age in this disorder and the usefulness of mutational analysis in these families. In symptomatic individuals, the hypertonic saline test may be a useful second-line investigation for functional studies of AVP secretion where molecular diagnostics are unavailable.
exons, diagnosis, diabetes insipidus, neurophysins, mutation, age of onset, administration & dosage, arginine vasopressin, health, hypertonic, infant, humans, diagnostic use, secretion, urine, polymorphism, child, diabetes, water deprivation, report, female, water, family, sequence analysis, deficiency, osmolar concentration, pedigree, dna, neurogenic, restriction fragment length, blood, saline solution, genetics, methods, arginine, analysis
0301-0163
231-237
Davies, J.H.
9f18fcad-f488-4c72-ac23-c154995443a9
Penney, M.
49cd752a-ec86-4cb2-8d43-8e9d2c6e0022
Abbes, A.P.
e9ca65da-14cf-4d47-a7f2-a45dc89fc6df
Engel, H.
3014e59e-b0ba-44a5-8a30-23d4ad2752b8
Gregory, J.W.
f14bbe24-2378-4a70-991d-4bbf8fa66ac5
Davies, J.H.
9f18fcad-f488-4c72-ac23-c154995443a9
Penney, M.
49cd752a-ec86-4cb2-8d43-8e9d2c6e0022
Abbes, A.P.
e9ca65da-14cf-4d47-a7f2-a45dc89fc6df
Engel, H.
3014e59e-b0ba-44a5-8a30-23d4ad2752b8
Gregory, J.W.
f14bbe24-2378-4a70-991d-4bbf8fa66ac5

Davies, J.H., Penney, M., Abbes, A.P., Engel, H. and Gregory, J.W. (2005) Clinical features, diagnosis and molecular studies of familial central diabetes insipidus. Hormone Research, 64 (5), 231-237. (doi:10.1159/000089291).

Record type: Article

Abstract

Background: Familial central diabetes insipidus (DI) is rare and is characterised by polydipsia and polyuria with a variable age of onset. The evaluation of arginine vasopressin (AVP) secretion in these individuals has been reported infrequently and only in adulthood.
Objective: To describe the clinical features, diagnosis and molecular investigation of children affected by familial central DI. Methods: Functional studies of AVP secretion were undertaken in children from two kindreds with familial central DI. The AVP-neurophysin II (AVP-NPII) gene was also sequenced in symptomatic individuals.
Results: In affected individuals, the result of the water deprivation test may be inconclusive. However, the hypertonic saline test identified both the severe and partial forms of AVP deficiency. A novel mutation of the AVP-NPII gene was identified by direct gene sequencing in both families.
Conclusions: This report highlights the progressive decline in AVP secretion with increasing age in this disorder and the usefulness of mutational analysis in these families. In symptomatic individuals, the hypertonic saline test may be a useful second-line investigation for functional studies of AVP secretion where molecular diagnostics are unavailable.

Full text not available from this repository.

More information

Published date: November 2005
Keywords: exons, diagnosis, diabetes insipidus, neurophysins, mutation, age of onset, administration & dosage, arginine vasopressin, health, hypertonic, infant, humans, diagnostic use, secretion, urine, polymorphism, child, diabetes, water deprivation, report, female, water, family, sequence analysis, deficiency, osmolar concentration, pedigree, dna, neurogenic, restriction fragment length, blood, saline solution, genetics, methods, arginine, analysis

Identifiers

Local EPrints ID: 59655
URI: https://eprints.soton.ac.uk/id/eprint/59655
ISSN: 0301-0163
PURE UUID: a6c01c0d-6a1b-4665-8f81-796bed39a7cc

Catalogue record

Date deposited: 04 Sep 2008
Last modified: 13 Mar 2019 20:30

Export record

Altmetrics

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of https://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×