Living with Congenital sodium diarrhea
A rare genetic condition with severe watery diarrhea, high in sodium, from before or at birth.
Understanding Congenital sodium diarrhea
It is a problem with how the intestine moves salts and water. It causes low blood sodium (hyponatremia) and too much acid in the blood (metabolic acidosis). It can begin during pregnancy or in newborns. It does not occur as part of a syndrome.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary mentions these:
- Severe watery diarrhea with lots of sodium
- Low blood sodium (hyponatremia)
- Too much acid in the blood (metabolic acidosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't name a gene. Inheritance can be autosomal dominant (one changed copy is enough) or autosomal recessive (a changed copy from each parent).
Also known as: congenital secretory diarrhea, sodium type; defective na^+^/h^+^ exchange in jejunum and/or ileum; na-h exchange deficiency; non-syndromic congenital sodium diarrhea
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital sodium diarrhea.
Explore research for Congenital sodium diarrhea
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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