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Article

Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Jun 2013

Fretzayas Andreas, Gole Evangelia, Attilakos Achilleas, Daskalaki Anna, Nicolaidou Polyxeni, Papadopoulou Anna

Abstract excerpt

Bartter syndrome (BS) is a group of genetic disorders characterized by hypokalemic metabolic alkalosis, hyponatremia and elevated renin and aldosterone plasma concentrations. BS type II is caused by mutations in the KCNJ1 gene and usually presents with transient hyperkalemia. We report here a novel KCNJ1 mutation in a male neonate, prematurely born after a pregnancy complicated by polyhydramnios. The infant...

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Source

Identifiers

PMID: 23782368
DOI: 10.1111/j.1442-200X.2012.03716.x

Genes

KCNJ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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