Living with Isolated neonatal sclerosing cholangitis
A rare genetic liver and bile duct condition in newborns, causing jaundice, pale stools, and an enlarged spleen.
Understanding Isolated neonatal sclerosing cholangitis
Bile ducts are open but the liver is damaged and scarred. Babies have jaundice (yellow skin), pale clay-colored stools, an enlarged liver and spleen, and a high level of a liver enzyme called GGT. Some people also have kidney disease. It does not include the skin changes seen in some related conditions.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Jaundice (yellow skin and eyes)
- Pale, clay-colored stools
- Enlarged spleen
- Itching
- Slowed or blocked bile flow (cholestasis)
- Liver scarring (fibrosis, cirrhosis)
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 DCDC2 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
PSC Partners Seeking a Cure may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: PSC Partners Seeking a Cure
- 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 PSC Partners Seeking a Cure
- 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 DCDC2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: nsc; sclerosing cholangitis, neonatal
Patient organizations
- PSC Partners Seeking a CureIsolated neonatal sclerosing cholangitis · United States
You are more than your diagnosis
Perspectives from people navigating life with Isolated neonatal sclerosing cholangitis.
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