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Article

Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis.

BMJ case reports - 7 Jan 2015

Abou Ziki Maen D, Verjee Mohamud A

Abstract excerpt

SLC26A3, a chloride/bicarbonate transporter mainly expressed in the intestines, plays a pivotal role in chloride absorption. We present a 23-year-old woman with a history of congenital chloride diarrhoea (CCD) and renal transplant who was admitted for rehydration and treatment of acute kidney injury after she presented with an acute diarrhoeal episode. Laboratory investigations confirmed metabolic alkalosis and...

Topics

Adult
Alkalosis
Bicarbonates
Chloride-Bicarbonate Antiporters
Chlorides
Diarrhea
Female
Humans
Kidney
Kidney Diseases
Kidney Transplantation
Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Omeprazole

Proton Pump Inhibitors

Sulfate Transporters

Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 25568271
DOI: 10.1136/bcr-2014-206849
PMCID: PMC4289764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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