Nephrogenic syndrome of inappropriate antidiuresis

Also known as: NSIAD

Hyponatremia from activating AVPR2 variants.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected, X-linked; Female: carriers variably; Children: yes, infancy
Gene(s) involved: AVPR2

Etiology & mechanism

Constitutive vasopressin receptor activation.

Gene(s) involved (1)

AVPR2

Symptoms & signs (5)

hyponatremiairritabilitylow antidiuretic hormonelow urine volumeseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.