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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital chloride diarrhea


Other Names for this Disease
  • Chloridorrhea, congenital
  • CLD
  • Congenital chloridorrhea
  • Darrow-Gamble disease
  • DIAR1
More Names
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Treatment


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How might congenital chloride diarrhea be treated?

There is no cure for the underlying condition, so treatment mainly focuses on the symptoms.[1] Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates.[1] In individuals with this condition, the goal is for the oral intake of chloride, sodium, and potassium to be greater than the amount lost through the feces (i.e., there must be a positive gastrointestinal balance) so that losses in sweat can be replaced.[2] Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children.[1] One study showed that a medication called omeprazole, a proton-pump inhibitor, reduces electrolyte losses in individuals and thus promotes a positive gastrointestinal balance. However, this treatment does not reduce the need for careful monitoring of dietary intake, electrolyte concentrations, and urinary chloride loss.[2] Another study discussed how butyrate could be effective in treating the condition, and that it is easily administered, useful in preventing severe dehydration episodes, and may be a promising approach for a long-term treatment.[3]
Last updated: 2/21/2011

References
  1. Hihnala S, Höglund P, Lammi L, Kokkonen J, Ormälä T, Holmberg C.. Long-term clinical outcome in patients with congenital chloride diarrhea. Journal of Pediatric Gastroenterology and Nutrition. April 2006; 42(4):369-375. http://www.ncbi.nlm.nih.gov/pubmed/16641574. Accessed 2/21/2011.
  2. Marla J. F. O'Neill. DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1. OMIM. January 12, 2010; http://www.ncbi.nlm.nih.gov/omim/214700. Accessed 2/21/2011.
  3. Canani RB, Terrin G, Cirillo P, Castaldo G, Salvatore F, Cardillo G, Coruzzo A, Troncone R. Butyrate as an effective treatment of congenital chloride diarrhea. Gastroenterology. August 2004; 127(2):630-634. http://www.ncbi.nlm.nih.gov/pubmed/15300594. Accessed 2/21/2011.