Abstract
Congenital chloride diarrhea is a rare, autosomal recessive disorder caused by mutations in the SLC26A3 gene. The primary defect is in the Cl-/HCO3 exchange mechanism of the distal ileum and colon, causing impaired active chloride absorption and bicarbonate secretion. It is characterized by chronic, watery diarrhea with a high fecal chloride concentration, hyponatremia, and hypochloremic metabolic alkalosis. A 12-month-old boy with congenital chloride diarrhea diagnosed by high fecal chloride concentration is presented
Keywords: Childhood, Diarrhea, Chlorine, Congenital, Chronic
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Copyright and license
Copyright © 2013 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.
