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
Related Documents :
20207729 - Bardet-biedl syndrome-associated small gtpase arl6 (bbs3) functions at or near the cili...
16765689 - Recurrent fbn1 mutation (r62c) in a chinese family with isolated ectopia lentis.
21696159 - Effect of the y955c mutation on mitochondrial dna polymerase nucleotide incorporation e...
19542079 - Defective complex i assembly due to c20orf7 mutations as a new cause of leigh syndrome.
19559399 - Loss-of-function mutation in the dioxygenase-encoding fto gene causes severe growth ret...
11992479 - Segregation of a novel fbn1 gene mutation, g1796e, with kyphoscoliosis and radiographic...
15523639 - A novel frameshift mutation of foxc2 gene in a family with hereditary lymphedema-distic...
8857999 - Malignant astrocytomas with homozygous cdkn2/p16 gene deletions have higher ki-67 proli...
25202399 - Dna repair gene xrcc1 arg194trp polymorphism and susceptibility to hepatocellular carci...
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Assay validation and biological variation of serum receptor for advanced glycation end-products.
Next Document:  An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiol...