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Article

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.

Journal of the American Society of Nephrology : JASN - 1 Jun 2003

Starremans Patrick G J F, Kersten Ferry F J, Knoers Nine V A M, van den Heuvel Lambertus P W J, Bindels René J M

Abstract excerpt

Bartter syndrome (BS) is a heterogeneous renal tubular disorder affecting Na-K-Cl reabsorption in the thick ascending limb of Henle's loop. BS type I patients typically present with profound hypokalemia and metabolic alkalosis. The main goal of the present study was to elucidate the functional implications of six homozygous mutations (G193R, A267S, G319R, A508T, del526N, and Y998X) in the bumetanide-sensitive...

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PMID: 12761241
DOI: 10.1097/01.asn.0000064948.39199.a0

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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.

Related research

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Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.PMID 12761241Read ↗

Rare mutations in the human Na-K-Cl cotransporter (NKCC2) associated with lower blood pressure exhibit impaired processing and transport function.Semantic proximity Read ↗

A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1.Semantic proximity Read ↗

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.Semantic proximity Read ↗

Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia.Semantic proximity Read ↗

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.Semantic proximity Read ↗

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.Semantic proximity Read ↗

Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.Semantic proximity Read ↗

Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1.Semantic proximity Read ↗

Salt-losing nephropathy in mice with a null mutation of the Clcnk2 gene.Semantic proximity Read ↗

Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome.Semantic proximity Read ↗

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.Semantic proximity Read ↗

Human and murine phenotypes associated with defects in cation-chloride cotransport.Semantic proximity Read ↗

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