Living with Congenital secretory diarrhea, chloride type
A lifelong genetic condition with large watery stools high in chloride, starting before birth.
Understanding Congenital secretory diarrhea, chloride type
Diarrhea begins even before birth. Ultrasound may show extra amniotic fluid and enlarged loops of intestine in the baby. Newborns are often premature and may have a swollen belly, so it can first be mistaken for an intestinal blockage. It can cause low blood sodium and chloride, dehydration, delayed growth and development, and kidney damage.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Watery (secretory) diarrhea
- Swollen belly (abdominal bloating)
- Dehydration
- Poor weight gain (failure to thrive)
- Delayed growth
- Premature birth
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 SLC26A3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Association of Gastrointestinal Motility Disorders may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Association of Gastrointestinal Motility Disorders
- 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 Association of Gastrointestinal Motility Disorders and other patient organizations
- 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
It is caused by changes in the SLC26A3 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chloride diarrhea, congenital, finnish type; chloridorrhea, congenital; congenital chloride diarrhea; congenital chloride diarrhea finnish type; congenital chloride diarrhoea finnish type; congenital chloridorrhea
Patient organizations
- Association of Gastrointestinal Motility DisordersCongenital secretory diarrhea, chloride type · United States
- AGA GI Patient CenterCongenital secretory diarrhea, chloride type · United States
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