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Article

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.

Endocrine journal - 1 Dec 2007

Adachi Masanori, Asakura Yumi, Sato Yoshiaki, Tajima Toshihiro, Nakajima Takeo, Yamamoto Toshiyuki, Fujieda Kenji

Abstract excerpt

Bartter syndrome (BS) type 1, also referred to antenatal BS, is a genetic tubulopathy with hypokalemic metabolic alkalosis and prenatal onset of polyuria leading to polyhydramnios. It has been shown that BS type 1 is caused by mutations in the SLC12A1 gene encoding bumetanide-sensitive Na-K-2Cl (-) cotransporter (NKCC2). We had the opportunity to care for two unrelated Japanese patients of BS type 1 with typical...

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Identifiers

PMID: 17998760
DOI: 10.1507/endocrj.k06-204

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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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