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Article

A family with hyponatremia and the nephrogenic syndrome of inappropriate antidiuresis.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Apr 2012

Bockenhauer Detlef, Penney Michael D, Hampton David, van't Hoff William, Gullett Ambrose, Sailesh Sankar, Bichet Daniel G

Abstract excerpt

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is an X-linked disorder caused by activating mutations in arginine vasopressin receptor 2 (AVPR2), resulting in persistently concentrated urine. We report on a family affected by NSIAD with the known mutation R137C, an arginine to cysteine substitution at amino acid 137. The spectrum of symptoms varied markedly and ranged from infrequent voiding to...

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Source

Identifiers

PMID: 22154540
DOI: 10.1053/j.ajkd.2011.09.026

Genes

AVPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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