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Nephrogenic Syndrome of Inappropriate Antidiuresis in Adults: High Phenotypic Variability in Men and Women from a Large Pedigree

Guy Decaux^*, Frédéric Vandergheynst^*, Yasmina Bouko^*, Jasmine Parma, Gilbert Vassart and Catheline Vilain

^* Department of General Internal Medicine and Department of Genetics, University Hospital Erasme, Institut de Recherche Interdisciplinaire, Free University of Brussels, Brussels, Belgium

Address correspondence to: Dr. Guy Decaux, General Internal Medicine, University Hospital Erasme, Route de Lennik, 808, B-1070 Brussels, Belgium. Phone: +32-2-555-49-60; Fax: +32-2-555-32-11; E-mail: guy.decaux{at}skynet.be

Received for publication September 11, 2006. Accepted for publication November 9, 2006.

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a recently described genetic cause of hyponatremia in male infants. Whether this X-linked condition could be detected in the adult or also could affect women is unknown. A large five-generation family was identified in which the recently described arginine-vasopressin receptor type 2 (AVPR2) mutation that is responsible for NSIAD was segregated. The proband was a 74-yr-old patient who had a syndrome of inappropriate antidiuresis and whose hyponatremia resisted administration of two AVPR2 antagonists. The phenotype of family members who carry the mutation was investigated. Patients with normal serum sodium were subjected to a water-load test. The previously reported activating missense R137C mutation in the AVPR2 gene in three hemizygous male and four heterozygous female individuals was identified. Except in one woman, spontaneous episodes of hyponatremia or abnormal water-load test were identified in all patients with the mutation, whether male or female. Skewed X inactivation was evidenced in the blood of the asymptomatic woman, which is compatible with preferential inactivation of her mutated allele. NSIAD is not limited to male infants. The diagnosis also should be considered in both male and female adults.

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Copyright © 2008 by the American Society of Nephrology. Online ISSN: 1533-3450 Print ISSN: 1046-6673