Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis

Ann Clin Biochem 2008;45:520-523
doi:10.1258/acb.2007.007211
© 2008 Association for Clinical Biochemistry

 

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Case Reports


Steven Soule1,
Chris Florkowski2,
Howard Potter2,
David Pattison3,
Martin Swan4,
Penny Hunt1 and
Peter George2


1 Department of Endocrinology;
2 Canterbury Health Laboratories, University of Otago Christchurch School of Medicine and Christchurch Hospital, Private Bag 4710, Christchurch, New Zealand;
3 Aspen Medical, RAMSI Medical Facility, PO Box 1597, Honiara, Solomon Islands;
4 Medical Treatment Centre, Burnham Military Camp, Private Bag 4720, Burnham, New Zealand


Corresponding author: Dr Steven Soule. Email: steven.soule{at}cdhb.govt.nz

A 20-year-old fit male soldier presented on two separate occasions16 months apart with severe, symptomatic hyponatraemia and aclinical and biochemical picture consistent with the syndromeof inappropriate secretion of antidiuretic hormone (SIADH).In the intervening period, repeated plasma sodium values werein the reference range. Intensive investigation failed to reveala cause for SIADH that was initially considered idiopathic.The description of a family comprising several adults with intermittentor water load induced-hyponatraemia associated with an activatingmutation 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 singlemissense mutation (R137C) in the second intracellular loop,which has been associated with constitutive activation of theAVPR2. In conclusion, adults with intermittent, severe hyponatraemiamay have a constitutively activating mutation in the AVPR2 withresultant nephrogenic syndrome of inappropriate antidiuresis.Patients with idiopathic SIADH, particularly those with unmeasurablecirculating AVP concentrations, should be considered for mutationalscreening of AVPR2.

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