Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

doi:10.1093/ndt/gfn689

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Article

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2009

Brochard Karine, Boyer Olivia, Blanchard Anne, Loirat Chantal, Niaudet Patrick, Macher Marie-Alice, Deschenes Georges, Bensman Albert, Decramer Stéphane, Cochat Pierre, Morin Denis, Broux Françoise, Caillez Mathilde, Guyot Claude, Novo Robert, Jeunemaître Xavier, Vargas-Poussou Rosa

Abstract excerpt

BACKGROUND: Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding proteins involved in NaCl reabsorption in the thick ascending limb of Henle's loop. Our aim was to study the frequency, clinical characteristics and outcome of each genetic subtype. METHODS: Charts of 42 children with mutations in KCNJ1 (n = 19), SLC12A1 (n = 13) CLCNKB (n = 6) or BSND (n =...

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Identifiers

PMID: 19096086
DOI: 10.1093/ndt/gfn689

Genes

KCNJ1
CLCNKB
BSND

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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