[MIM 300 539]

Very rare: < 1/106.  X-linked recessive transmission of a mutation of the AVPR2 gene (Xq28) coding for the arginine vasopressin V2 receptor. This results from the first weeks of life in a failure of the renal tubule to dilute urine (increased expression of aquaporin on the luminal side of the tubular cells by constant activation of the receptor), leading to hyponatremia and so hemodilution. The disease can also remain asymptomatic for a long time and appear in adulthood, especially during pregnancy.

Clinical signs: vomiting, headache, convulsions.

Biology: hyponatremia, urinary Na  > 30 mmol/L and low, even undetectable, plasma levels of arginine-vasopressin.

Treatment: fluid restriction, urea to stimulate osmotic diuresis.

Anesthetic implications:

decreased fluid supply and monitoring of blood electrolytes (Na)

References : 

-        Cailleaux A, Mahieu F, Heinrichs C, Adamms B, Ismaili K, Brachet C.
Syndrome néphrogénique d’antidiurèse inappropriée : un diagnostic précoce évite les complications d’une hyponatrémie sévère.
Arch Pédiatr 2017 ; 24 : 630-3.

Updated: July 2017