Document Detail

Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis.
MedLine Citation:
PMID:  18753429     Owner:  NLM     Status:  MEDLINE    
A 20-year-old fit male soldier presented on two separate occasions 16 months apart with severe, symptomatic hyponatraemia and a clinical and biochemical picture consistent with the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). In the intervening period, repeated plasma sodium values were in the reference range. Intensive investigation failed to reveal a cause for SIADH that was initially considered idiopathic. The description of a family comprising several adults with intermittent or water load induced-hyponatraemia associated with an activating mutation in the arginine vasopressin (AVP) receptor type 2 (AVPR2) raised the question of whether our patient could have a similar 'nephrogenic syndrome of inappropriate antidiuresis'. Mutational screening of AVPR2 in our patient revealed a single missense mutation (R137C) in the second intracellular loop, which has been associated with constitutive activation of the AVPR2. In conclusion, adults with intermittent, severe hyponatraemia may have a constitutively activating mutation in the AVPR2 with resultant nephrogenic syndrome of inappropriate antidiuresis. Patients with idiopathic SIADH, particularly those with unmeasurable circulating AVP concentrations, should be considered for mutational screening of AVPR2.
Steven Soule; Chris Florkowski; Howard Potter; David Pattison; Martin Swan; Penny Hunt; Peter George
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annals of clinical biochemistry     Volume:  45     ISSN:  0004-5632     ISO Abbreviation:  Ann. Clin. Biochem.     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-08-28     Completed Date:  2008-11-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0324055     Medline TA:  Ann Clin Biochem     Country:  England    
Other Details:
Languages:  eng     Pagination:  520-3     Citation Subset:  IM    
Department of Endocrinology, Canterbury Health Laboratories, University of Otago Christchurch School of Medicine and Hospital, Christchurch, New Zealand.
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MeSH Terms
Arginine / chemistry
Arginine Vasopressin / blood*,  genetics
DNA Mutational Analysis
Hyponatremia / blood*,  diagnosis*,  genetics
Inappropriate ADH Syndrome / blood*,  genetics*
Kidney Diseases / genetics*,  pathology*
Mutation, Missense
Receptors, Vasopressin / genetics
Seizures / diagnosis
Reg. No./Substance:
0/Receptors, Vasopressin; 113-79-1/Arginine Vasopressin; 74-79-3/Arginine

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