- Author:
Hee Cheol JO
1
;
Jong Seo YOON
;
Joo Young JANG
;
Young Bae SOHN
;
Jang Hoon LEE
;
Hae Il CHEONG
;
Moon Sung PARK
Author Information
- Publication Type:Case Report
- Keywords: Congenital chloride diarrhea; Alkalosis; SLC26A3; Proton pump inhibitor; Omeprazole
- MeSH: Absorption; Alkalosis; Butyrates; Colon; Dehydration; Diarrhea*; Failure to Thrive; Humans; Hyponatremia; Ileum; Infant; Male; Omeprazole; Proton Pump Inhibitors; Proton Pumps*; Protons*
- From:Neonatal Medicine 2016;23(1):59-63
- CountryRepublic 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.