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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have suffered from this rare condition all my life, and it is difficult to control my symptoms. Could you point me in the direction of information and experts regarding this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is congenital chloride diarrhea?

Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride.[1] Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature.[2][1] The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume depletion, hyperreninemia (elevated levels of renin in the blood), hyperaldosteronism, renal potassium wasting, and sometimes nephropathy.[2] Mutations in the SLC26A3 gene have been found to cause the condition.[1] It is inherited in an autosomal recessive manner.[2] Treatment generally focuses on the individual symptoms of the condition and typically includes taking oral supplements of sodium and potassium chloride.[2]
Last updated: 2/21/2011

How might congenital chloride diarrhea be treated?

There is no cure for the underlying condition, so treatment mainly focuses on the symptoms.[3] 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.[3] 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.[4] Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children.[3] 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.[4] 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.[5]
Last updated: 2/21/2011

How can I find an expert who has knowledge and experience regarding a specific condition?

Although there is no list of experts for rare diseases, a fact sheet is available on our Web site with tips for finding healthcare professionals and researchers who have experience with a particular condition. Potential resources include patient advocacy groups, researchers conducting clinical trials, and authors of articles published in medical journals. Click here to view our fact sheet. If you are unable to locate an expert using these suggestions, please let us know.
Last updated: 9/29/2014

References
  • SLC26A3. Genetics Home Reference. February 13, 2011; http://ghr.nlm.nih.gov/gene/SLC26A3. Accessed 2/21/2011.
  • Berendt W. Aichbichler, Charles H. Zerr, Carol A. Santa Ana, Jack L. Porter, and John S. Fordtran. Proton-Pump Inhibition of Gastric Chloride Secretion in Congenital Chloridorrhea. The New England Journal of Medicine. January 9, 1997; 336:106-109. http://www.nejm.org/doi/full/10.1056/NEJM199701093360205. Accessed 2/21/2011.
  • 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.
  • 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.
  • 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.
Other Names for this Disease
  • Chloridorrhea, congenital
  • CLD
  • Congenital chloridorrhea
  • Darrow-Gamble disease
  • DIAR1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.