Neonatal Medicine  2016;23(1):59-63

doi:10.5385/nm.2016.23.1.59

Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea.

Hee Cheol JO 1 ; Jong Seo YOON ; Joo Young JANG ; Young Bae SOHN ; Jang Hoon LEE ; Hae Il CHEONG ; Moon Sung PARK

Affiliations

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Keywords

Congenital chloride diarrhea; Alkalosis; SLC26A3; Proton pump inhibitor; Omeprazole

Country

Republic of Korea

Language

English

Abstract

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/HCO3 - exchanger in the ileum and the colon. Its main features are profuse watery diarrhea, high fecal chloride concentration, and failure to thrive. Profuse watery diarrhea characterized by a high concentration of chloride in stools results in hypochloremia, hyponatremia, and dehydration with metabolic alkalosis. Early detection and therapeutic intervention can prevent life-threatening symptoms of CCD and growth failure. Recently, several therapies, such as proton pump inhibitors and butyrate, have been suggested for amelioration of diarrhea. Here, we report a case of CCD in a preterm male infant who was successfully treated with an oral proton pump inhibitor.