Living with Polycystic kidney disease 4
A rare liver condition present from birth that can cause an enlarged liver and spleen, scarring and high pressure in liver blood vessels.
Understanding Polycystic kidney disease 4
It is also called congenital hepatic fibrosis. It can cause a large liver and spleen, scar tissue in the liver (fibrosis), and high pressure in the blood vessels that carry blood to the liver (portal hypertension). Bleeding in the digestive tract from swollen veins (varices) can occur. It usually occurs as part of a syndrome that also affects the kidneys.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Large liver
- Large spleen
- Scar tissue in the liver (fibrosis)
- High pressure in the liver's blood vessels (portal hypertension)
- Bleeding in the digestive tract from varices
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 ARPKD/CHF Alliance 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
GARD says this condition is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: pkd4; polycystic kidney and hepatic disease 1; polycystic kidney disease 4 with or without polycystic liver disease; polycystic kidney disease 4, with or without hepatic disease; polycystic kidney disease, infantile, type i
Patient organizations
- ARPKD/CHF AlliancePolycystic kidney disease 4 · United States
- PKD- Free AlliancePolycystic kidney disease 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Polycystic kidney disease 4.
Explore research for Polycystic kidney disease 4
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