| Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea. |
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Hee Cheol Jo, Jong Seo Yoon, Joo Young Jang, Young Bae Sohn, Jang Hoon Lee, Hae Il Cheong, Moon Sung Park |
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. |
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| Abstract |
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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. |
| Key Words:
Congenital chloride diarrhea; Alkalosis; SLC26A3; Proton pump inhibitor; Omeprazole |
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