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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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What is congenital chloride diarrhea?

How might congenital chloride diarrhea be treated?

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

  1. SLC26A3. Genetics Home Reference. February 13, 2011; Accessed 2/21/2011.
  2. 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. Accessed 2/21/2011.
  3. 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. Accessed 2/21/2011.
  4. Marla J. F. O'Neill. DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL; DIAR1. OMIM. January 12, 2010; Accessed 2/21/2011.
  5. 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. Accessed 2/21/2011.