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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
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Overview

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

References

  1. SLC26A3. Genetics Home Reference. February 13, 2011; http://ghr.nlm.nih.gov/gene/SLC26A3. 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. http://www.nejm.org/doi/full/10.1056/NEJM199701093360205. Accessed 2/21/2011.
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Basic Information

  • The Centers for Disease Control and Prevention (CDC) provides information on chronic diarrhea. The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital chloride diarrhea. Click on the link to view a sample search on this topic.
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.