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 (CCD) is a lifelong condition that causes large, watery stools (diarrhea) that contain an excess of chloride.^[1] Those with CCD have diarrhea even before birth.^[2] Signs of CCD before birth may be detected with an ultrasound, and may include an increased amount of amniotic fluid (polyhydramnios) and enlarged (dilated) intestinal loops in the fetus.^[3] Newborns with CCD are often premature and may have a swollen-looking abdomen (abdominal distention).^[4] For this reason, CCD is sometimes first mistaken for an intestinal obstruction.^[5] CCD causes electrolyte imbalances including low blood sodium levels (hyponatremia) and chloride levels (hypochloremia).^[4] Electrolyte imbalances and severe dehydration can lead to volume depletion (too little fluid surrounding body cells), loss of acid from the blood (metabolic alkalosis), hyperaldosteronism, delayed growth and development, and kidney damage (nephropathy).^[2]^[4] Untreated CCD can ultimately be fatal within the first weeks or months of life.^[3]

CCD is caused by mutations in the SLC26A3 gene and inheritance is autosomal recessive.^[1]^[2]^[4] The diagnosis is based on detecting excessive chloride in the feces, when the newborn is in fluid and electrolyte balance.^[4]

Treatment aims to control symptoms by replacing lost electrolytes and water, and typically involves oral or intravenous sodium chloride and potassium chloride.^[4]^[5] Infants who are diagnosed and treated very shortly after birth have the potential to grow and develop normally.^[5] If not treated adequately, CCD ultimately causes chronic kidney disease.^[5]

Last updated: 2/1/2018

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abdominal distention	Abdominal bloating Abdominal swelling Belly bloating Bloating [ more ]	0003270
Abnormality of the cardiovascular system	Cardiovascular abnormality	0001626
Alkalosis		0001948
Autosomal recessive inheritance		0000007
Dehydration		0001944
Diarrhea	Watery stool	0002014
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Growth abnormality	Abnormal growth Growth issue [ more ]	0001507
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hyperactive renin-angiotensin system		0000841
Hyperaldosteronism	Elevated plasma aldosterone Increased aldosterone Increased aldosterone production [ more ]	0000859
Hypochloremia	Low blood chloride levels	0003113
Hypokalemia	Low blood potassium levels	0002900
Hyponatremia	Low blood sodium levels	0002902
Metabolic alkalosis		0200114
Polyhydramnios	High levels of amniotic fluid	0001561
Premature birth	Premature delivery of affected infants Preterm delivery [ more ]	0001622

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

Congenital chloride diarrhea (CCD) is a lifelong disease, so treatment focuses on managing symptoms and preventing complications. Early diagnosis and treatment in the absence of major complications can lead to normal growth and development.^[6] The main treatment is called salt substitution therapy (receiving sodium chloride and potassium chloride). Newborns are first given this therapy intravenously (by IV) and are later transitioned to oral therapy.^[7] Diarrhea will persist through therapy even when there is adequate salt substitution, although the relative amount of stool generally decreases with age.^[7]^[3]

Treatment for episodes of acute gastroenteritis ("stomach flu") in children with CCD is extremely important because they can experience rapid dehydration and loss of potassium (hypokalemia). These episodes should be treated with IV replacement of fluids and electrolytes. In adulthood, people with CCD are usually able to avoid dehydration by taking extra salt substitution.^[3]

Last updated: 2/5/2018

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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

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: 1-888-964-2001
Telephone: +1-414-964-1799
Fax: +1-414-964-7176
E-mail: iffgd@iffgd.org
Website: https://iffgd.org/

Organizations Providing General Support

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

Do you know of an organization? We want to hear from you.

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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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.
Wedenoja S, Höglund P, Holmberg C. Review article: the clinical management of congenital chloride diarrhoea. Aliment Pharmacol Ther. February 15, 2010; 31(4):477-485. http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2036.2009.04197.x/pdf.
Kellermayer R, Shulman R. Overview of the causes of chronic diarrhea in children in resource-rich countries. UpToDate. Waltham, MA: UpToDate; December 6, 2017; https://www.uptodate.com/contents/overview-of-the-causes-of-chronic-diarrhea-in-children-in-resource-rich-countries.
Kawamura T, Nishiguchi T. Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI). Am J Case Rep. June 24, 2017; 18:707-713. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493062/.
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.
Pieroni KP, Bass D. Proton pump inhibitor treatment for congenital chloride diarrhea. Dig Dis Sci. March, 2011; 56(3):673-676. https://www.ncbi.nlm.nih.gov/pubmed/21127979.
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.