ea0017oc2 | Endocrinology 1 | BSPED2008
Gupta S
, Cheetham T
, Lambert H
, Roberts C
, Bourn D
, Coulthard M
, Ball S
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...