Living with Syndromic congenital sodium diarrhea
A rare genetic gut condition present at birth, with severe watery diarrhea, plus nose, eye, and sometimes other differences.
Understanding Syndromic congenital sodium diarrhea
The diarrhea contains a lot of sodium and can lead to low blood sodium and too much acid in the blood (metabolic acidosis). Most people also have a blocked back of the nose (choanal atresia) on one or both sides and corneal erosions. Some have blocked intestines or an extra finger or toe. Signs may begin during pregnancy or in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Severe watery diarrhea from birth
- Low blood sodium
- Too much acid in the blood
- Blocked back of the nose (choanal atresia)
- Corneal erosions
- Blocked intestine or extra fingers or toes
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.
- 3Consider genetic testing
Changes in SPINT2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Changes in the SPINT2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: syndromic congenital tufting enteropathy
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 Syndromic congenital sodium diarrhea.
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