Familial nephrogenic syndrome of inappropriate antidiuresis: dissociation between aquaporin-2 and vasopressin excretion

The Journal of Clinical Endocrinology and Metabolism
Bruno RanchinGhislaine Geelen

Abstract

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD), the X-linked disease resulting from activating mutation of the vasopressin V2 receptor gene (AVPR2), is a recently described condition causative of episodes of hyponatremia in boys and male and female adults. The objective of the study was the pathophysiological characterization of NSIAD. A family with NSIAD was identified and investigated for hyponatremic episodes and degrees of urine dilution defects. For the first time, the impact of the mutated V2R on aquaporin 2 (AQP2) excretion is reported. The study was conducted at a referral center. Five patients of seven carriers (two young brothers and their mother and her two sisters) were investigated together with age-matched controls. There were no interventions. In NSIAD patients, urinary AQP2 excretion occurred independently of concomitant vasopressin excretion and strongly correlated with urine osmolality, confirming direct AQP2 involvement in urine concentration. Water loading was followed by a very slow and incomplete elimination in the asymptomatic hemizygous boy with no suppression of AQP2 excretion and a delayed elimination in the heterozygous women because of an incomplete suppression of AQP2, and it induced hyp...Continue Reading

Citations

Apr 21, 2012·International Journal of Pediatrics·D MorinT Durroux
Dec 14, 2011·Clinical and Experimental Nephrology·Sei SasakiMasahiro Muraguchi
Dec 21, 2012·Kidney International·Anna J Jovanovich, Tomas Berl
Nov 29, 2011·Annales d'endocrinologie·Marie-Christine VantyghemClaire Douillard
Dec 18, 2013·Biochimica Et Biophysica Acta·Marleen L A Kortenoeven, Robert A Fenton
Feb 24, 2018·Endocrinology, Diabetes & Metabolism Case Reports·Jennifer HagueHelen Simpson
Mar 4, 2011·American Journal of Physiology. Renal Physiology·Kristian Vinter JuulJens Peter Nørgaard
Mar 17, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Flaminia BardanzelluMaria Antonietta Marcialis
Jun 24, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·B BerghuisB P C Koeleman
Sep 2, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Flaminia BardanzelluVassilios Fanos

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