Authors: Chitturi, Sridhar¹; Harris, Mark¹; Thomsett, Michael J.¹; Bowling, Francis²; McGown, Ivan³; Cowley, David³; Leong, Gary M.¹; Batch, Jennifer⁴; Cotterill, Andrew M.¹

Source: Clinical Endocrinology, Volume 69, Number 6, December 2008 , pp. 926-930(5)

Publisher: Wiley-Blackwell

Abstract:

Summary 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.

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1365-2265.2008.03303.x

Affiliations: 1: Paediatric Endocrinology and Diabetes, 2: Metabolic Medicine, 3: Clinical Chemistry, Mater Children's Hospital and 4: Paediatric Endocrinology, Royal Children's Hospital, Brisbane, Australia

Publication date: 2008-12-01

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• In this Subject: Anatomy & Physiology ,  Internal Medicine
• By this author: Chitturi, Sridhar ;  Harris, Mark ;  Thomsett, Michael J. ;  Bowling, Francis ;  McGown, Ivan ;  Cowley, David ;  Leong, Gary M. ;  Batch, Jennifer ;  Cotterill, Andrew M.

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