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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.

european journal of endocrinology

Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis