Living with Congenital diarrhea 6
A rare inherited bowel condition with long-lasting diarrhea and intestine inflammation starting in infancy.
Understanding Congenital diarrhea 6
It comes from overactivity of an enzyme called guanylate cyclase 2C. Other features include gas and bloating, dehydration, and changes in blood acid and salt levels. Slow bowel movement, small-bowel blockage, esophagus irritation, irritable bowel syndrome and Crohn's disease are often linked. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic diarrhea
- Gas and bloating (meteorism)
- Dehydration
- Intestinal inflammation
- Crohn's disease, in some
- Abdominal pain, in some
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 GUCY2C 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 Pull-thru Network
- 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 GUCY2C gene are listed. It is autosomal dominant, so one changed copy of the gene is enough to cause it.
Also known as: chronic diarrhea due to guanylate cyclase 2c overactivity; chronic diarrhoea due to guanylate cyclase 2c overactivity; chronic infantile diarrhea due to guanylate cyclase 2c overactivity; congenital diarrhea caused by mutation in gucy2c; congenital diarrhea type 6; congenital diarrhoea caused by mutation in gucy2c
Patient organizations
- Pull-thru NetworkCongenital diarrhea 6 · United States
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