Neonatal Med.
2016 Feb;23(1):59-63. 10.5385/nm.2016.23.1.59.
Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea
- Affiliations
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- 1Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea. neopedlee@gmail.com
- 2Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.
- 3Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
- KMID: 2312992
- DOI: http://doi.org/10.5385/nm.2016.23.1.59
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.
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