Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

doi:10.1681/ASN.2016101057

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Article

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Journal of the American Society of Nephrology : JASN - 1 Aug 2017

Seys Elsa, Andrini Olga, Keck Mathilde, Mansour-Hendili Lamisse, Courand Pierre-Yves, Simian Christophe, Deschenes Georges, Kwon Theresa, Bertholet-Thomas Aurélia, Bobrie Guillaume, Borde Jean Sébastien, Bourdat-Michel Guylhène, Decramer Stéphane, Cailliez Mathilde, Krug Pauline, Cozette Paul, Delbet Jean Daniel, Dubourg Laurence, Chaveau Dominique, Fila Marc, Jourde-Chiche Noémie, Knebelmann Bertrand, Lavocat Marie-Pierre, Lemoine Sandrine, Djeddi Djamal, Llanas Brigitte, Louillet Ferielle, Merieau Elodie, Mileva Maria, Mota-Vieira Luisa, Mousson Christiane, Nobili François, Novo Robert, Roussey-Kesler Gwenaëlle, Vrillon Isabelle, Walsh Stephen B, Teulon Jacques, Blanchard Anne, Vargas-Poussou Rosa

Abstract excerpt

Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and...

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Identifiers

PMID: 28381550
DOI: 10.1681/ASN.2016101057
PMCID: PMC5533235

Genes

CLCNKB

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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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