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Congenital chloride diarrhea

A rare inherited intestinal disorder that causes lifelong chloride-rich secretory diarrhea.

Congenital chloride diarrhea results from altered intestinal chloride and bicarbonate transport associated with SLC26A3 mutations. It can begin before birth and continues as secretory diarrhea. A student may encounter it among congenital causes of persistent diarrhea, where chloride-rich stool helps distinguish its mechanism.

Card id: congenital-chloride-diarrhea

Sources

  • Wedenoja S, Pekansaari E, Höglund P, et al. Update on SLC26A3 mutations in congenital chloride diarrhea, Human Mutation, 2011, https://pubmed.ncbi.nlm.nih.gov/21394828/

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