Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus

Chitturi, Sridhar, Harris, Mark, Thomsett, Michael J., Bowling, Francis, McGown, Ivan, Cowley, David, Leong, Gary M., Batch, Jennifer and Cotterill, Andrew M. (2008) Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. Clinical Endocrinology, 69 6: 926-930. doi:10.1111/j.1365-2265.2008.03303.x


Author Chitturi, Sridhar
Harris, Mark
Thomsett, Michael J.
Bowling, Francis
McGown, Ivan
Cowley, David
Leong, Gary M.
Batch, Jennifer
Cotterill, Andrew M.
Title Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus
Journal name Clinical Endocrinology   Check publisher's open access policy
ISSN 0300-0664
1365-2265
Publication date 2008-12-01
Year available 2008
Sub-type Article (original research)
DOI 10.1111/j.1365-2265.2008.03303.x
Open Access Status
Volume 69
Issue 6
Start page 926
End page 930
Total pages 5
Place of publication U K
Publisher Wiley-Blackwell Publishing Ltd
Language eng
Subject C1
920104 Diabetes
110107 Metabolic Medicine
Abstract Familial neurohypophyseal diabetes insipidus (FNDI) is a rare disorder resulting from arginine vasopressin (AVP) gene mutations. A partial defect in AVP secretion occurs early in the course of FNDI and may not be detected by a water deprivation test (WDT). Testing for AVP gene mutations may confirm a diagnosis of FNDI when a WDT is inconclusive and may also predict individuals who will later develop FNDI.
Formatted abstract
Context Familial neurohypophyseal diabetes insipidus (FNDI) is a rare disorder resulting from arginine vasopressin (AVP) gene mutations. A partial defect in AVP secretion occurs early in the course of FNDI and may not be detected by a water deprivation test (WDT). Testing for AVP gene mutations may confirm a diagnosis of FNDI when a WDT is inconclusive and may also predict individuals who will later develop FNDI.

Objective To test the utility of AVP gene analysis in confirming the diagnosis of FNDI.

Patients Five families (20 subjects, 14 symptomatic and six asymptomatic) with FNDI and nine children with idiopathic neurohypophyseal diabetes insipidus (INDI).

Measurements Genomic DNA was analysed for AVP gene mutations using polymerase chain reaction (PCR) amplification and sequencing.

Results Heterozygous AVP gene mutations were found in all subjects with FNDI but none of the ICDI patients. Each family had their own distinct mutation. We identified two novel mutations (C44W and C105S). One asymptomatic subject developed diabetes insipidus (DI) 4 months after detection of an AVP gene mutation. The WDT suggested partial DI in 4/6 but was normal in 2/6 children with FNDI.

Conclusion AVP gene testing allowed diagnostic confirmation of FNDI when the WDT was inconclusive in symptomatic children, therefore obviating the need for a repeat WDT and enabling earlier initiation of appropriate treatment. AVP gene testing also has the potential to identify which asymptomatic children will later develop FNDI.
Keyword Endocrinology & Metabolism
Endocrinology & Metabolism
ENDOCRINOLOGY & METABOLISM
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2009 Higher Education Research Data Collection
Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
 
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Created: Wed, 15 Apr 2009, 00:24:27 EST by Denise Wilson on behalf of School of Medicine