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Thirst perception and AVP production in a kindred with an activating mutation of the type 2 Vasopressin receptor. The pathophysiology of Nephrogenic Syndrome of Antidiuresis (NSIAD)

S Gupta, Paediatrics, Hull Royal Infirmary, Hull, United Kingdom
T Cheetham, Paediatric Endocrinology, Newcastle University, Newcastle Upon Tyne, United Kingdom
C Roberts, International Centre for Life, The Institute of Human Genetics, Newcastle-upon-Tyne, United Kingdom
D Bourn, International Centre for Life, The Institute of Human Genetics, Newcastle-upon-Tyne, United Kingdom
M Coulthard, Paediatrics, Royal Victoria Infirmary, Newcastle-upon-Tyne, United Kingdom
H Lambert, Paediatrics, Royal Victoria Infirmary, Newcastle-upon-Tyne, United Kingdom
S Ball, Medicine, Newcastle University, Newcastle, United Kingdom

Correspondence: Tim Cheetham, Email: Tim.Cheetham{at}nuth.nhs.uk

Abstract

Activating mutations of the vasopressin receptor gene on the X chromosome cause the nephrogenic syndrome of inappropriate antidiuresis (NSIAD). We describe a male child who presented with persistent hyponatraemia and whose mother was also found to be hyponatraemic. She had learnt to avoid excess fluid consumption because of associated malaise. Both individuals had a subnormal ability to excrete a water load with mother also demonstrating a heightened sense of thirst at low serum osmolalities. Mother and child were found to have the previously characterised activating mutation (p.Arg137Cys) of the Arginine vasopressin receptor type 2 gene (AVPR2) but had measurable levels of AVP when hyponatraemic. We conclude that female carriers of activating mutations of the vasopressin receptor (V2R) are susceptible to hyponatraemia and therefore need to be provided with advice regarding fluid intake. An altered thirst perception may increase susceptibility to hyponatraemia. The presence of measurable amounts of AVP in patients with hyponatraemia does not exclude the diagnosis of NSIAD.