ea0015p207 | Neuroendocrinology and behaviour | SFEBES2008
Gupta Sanjay
, Cheetham Tim
, Roberts Cathe rine
, Bourn David
, Lambert Heather
, Coulthard Malcolm
, Ball Steve
Introduction: The Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked condition characterised by reduced renal water clearance and hyponatraemia resulting from gain of function mutations in the type 2 Vasopressin (AVP) receptor (AVPR2). Female carriers were thought not to express a phenotype. We describe a kindred with NSIAD, highlighting molecular and physiological characteristics that extend understanding of this condition and of AVP production.<p c...