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Article

A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.

Pediatric nephrology (Berlin, Germany) - 1 Feb 2006

Kitanaka Sachiko, Sato Utako, Maruyama Kenichi, Igarashi Takashi

Abstract excerpt

Bartter syndrome is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types. Type IV Bartter syndrome is a type of neonatal Bartter syndrome with sensorineural deafness and has been recently shown to be caused by mutations in the BSND gene. Owing to the rarity of this disease, only a limited number of mutations have been reported. We analyzed the BSND gene in a patient with type...

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Identifiers

PMID: 16328537
DOI: 10.1007/s00467-005-2091-6

Genes

BSND

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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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