PMID- 18494865
OWN - NLM
STAT- MEDLINE
DCOM- 20090730
LR  - 20181201
IS  - 1365-2265 (Electronic)
IS  - 0300-0664 (Linking)
VI  - 69
IP  - 6
DP  - 2008 Dec
TI  - Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus.
PG  - 926-30
LID - 10.1111/j.1365-2265.2008.03303.x [doi]
AB  - 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.
FAU - Chitturi, Sridhar
AU  - Chitturi S
AD  - Paediatric Endocrinology and Diabetes, Mater Children's Hospital, Brisbane, 
      Australia.
FAU - Harris, Mark
AU  - Harris M
FAU - Thomsett, Michael J
AU  - Thomsett MJ
FAU - Bowling, Francis
AU  - Bowling F
FAU - McGown, Ivan
AU  - McGown I
FAU - Cowley, David
AU  - Cowley D
FAU - Leong, Gary M
AU  - Leong GM
FAU - Batch, Jennifer
AU  - Batch J
FAU - Cotterill, Andrew M
AU  - Cotterill AM
LA  - eng
PT  - Journal Article
DEP - 20080520
PL  - England
TA  - Clin Endocrinol (Oxf)
JT  - Clinical endocrinology
JID - 0346653
RN  - 113-79-1 (Arginine Vasopressin)
SB  - IM
MH  - Arginine Vasopressin/*genetics/metabolism
MH  - Child
MH  - Child, Preschool
MH  - Diabetes Insipidus, Neurogenic/*genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Pituitary Gland, Posterior/abnormalities
MH  - Water Deprivation
EDAT- 2008/05/23 09:00
MHDA- 2009/07/31 09:00
CRDT- 2008/05/23 09:00
PHST- 2008/05/23 09:00 [pubmed]
PHST- 2009/07/31 09:00 [medline]
PHST- 2008/05/23 09:00 [entrez]
AID - CEN3303 [pii]
AID - 10.1111/j.1365-2265.2008.03303.x [doi]
PST - ppublish
SO  - Clin Endocrinol (Oxf). 2008 Dec;69(6):926-30. doi: 
      10.1111/j.1365-2265.2008.03303.x. Epub 2008 May 20.