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Article

A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism.

Pediatric nephrology (Berlin, Germany) - 1 Aug 2007

Nozu Kandai, Fu Xue Jun, Kaito Hiroshi, Kanda Kyoko, Yokoyama Naoki, Przybyslaw Krol Rafal, Nakajima Toshihiro, Kajiyama Mizutaka, Iijima Kazumoto, Matsuo Masafumi

Abstract excerpt

Bartter syndrome (BS) is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types. One of these, type II BS (OMIM 241200), is classified as neonatal Bartter syndrome, which is caused by mutations in the KCNJ1 gene. Transient hyperkalemia and hyponatremia are usual...

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Source

Identifiers

PMID: 17401586
DOI: 10.1007/s00467-007-0468-4

Genes

KCNJ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17401586-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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