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

Abou Ziki, Maen D; Verjee, Mohamud A

Abou Ziki, Maen D; Verjee, Mohamud A.

Affiliation

Abou Ziki MD; Yale Waterbury Internal Medicine Residency Program, Yale University School of Medicine, New Haven, Connecticut, USA.
Verjee MA; Department of Medical Education, Weill Cornell Medical College in Qatar, Doha, Qatar.

BMJ Case Rep ; 20152015 Jan 07.

Article in En | MEDLINE | ID: mdl-25568271

Subject(s)

Alkalosis/genetics; Chloride-Bicarbonate Antiporters/genetics; Chlorides/metabolism; Diarrhea/congenital; Kidney Diseases/genetics; Metabolism, Inborn Errors/drug therapy; Mutation; Omeprazole/therapeutic use; Adult; Alkalosis/blood; Alkalosis/drug therapy; Alkalosis/etiology; Bicarbonates/blood; Chlorides/therapeutic use; Diarrhea/drug therapy; Diarrhea/genetics; Female; Humans; Kidney/metabolism; Kidney/surgery; Kidney Diseases/etiology; Kidney Diseases/surgery; Kidney Transplantation; Metabolism, Inborn Errors/genetics; Proton Pump Inhibitors/therapeutic use; Sulfate Transporters; Young Adult

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Full text: 1 Database: MEDLINE Main subject: Omeprazole / Chlorides / Chloride-Bicarbonate Antiporters / Diarrhea / Alkalosis / Kidney Diseases / Metabolism, Inborn Errors / Mutation Type of study: Etiology_studies Language: En Journal: BMJ Case Rep Year: 2015 Type: Article Affiliation country: United States

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