Congenital chloride diarrhea

Title

Other Names:

CLD; Diarrhea 1, secretory chloride, congenital; DIAR1; CLD; Diarrhea 1, secretory chloride, congenital; DIAR1; Chloridorrhea, congenital; Congenital chloridorrhea; Darrow-Gamble disease; Familial chloride diarrhea See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases

Summary Summary

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

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abdominal distention	-
Abnormality of the cardiovascular system	-
Autosomal recessive inheritance	-
Dehydration	-
Diarrhea	-
Failure to thrive	-
Growth delay	-
Hyperactive renin-angiotensin system	-
Hyperaldosteronism	-
Hypochloremia	-
Hypokalemia	-
Hyponatremia	-
Metabolic alkalosis	-
Polyhydramnios	-
Premature birth	-

Last updated: 10/1/2016

Treatment Treatment

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

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Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Gastroenterological Association
4930 Del Ray Avenue
Bethesda, MD 20814
Telephone: 301–654–2055
Fax: 301–654–5920
E-mail: communication@gastro.org
Website: http://www.gastro.org/patient
Association of Gastrointestinal Motility Disorders, Inc. (AGMD)
AGMD International Corporate Headquarters
12 Roberts Drive
Bedford, MA 01730
Telephone: 781-275-1300
E-mail: digestive.motility@gmail.com
Website: http://www.agmd-gimotility.org
International Foundation for Functional Gastrointestinal Disorders (IFFGD)
PO Box 170864
Milwaukee, WI 53217
Toll-free: 888-964-2001
Telephone: 414-964-1799
Fax: 414-964-7176
E-mail: iffgd@iffgd.org
Website: http://iffgd.org/

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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.

GARD Answers GARD Answers

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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? See answer

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References 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.