Congenital Hepatic Fibrosis (CHF) is a rare, inherited disorder characterized by the malformation of the bile ducts and progressive fibrosis (scarring) of the liver tissue. This condition is part of a group of disorders known as fibropolycystic liver diseases, which also include Caroli disease and autosomal recessive polycystic kidney disease (ARPKD).
CHF is primarily caused by mutations in the PKHD1 gene, which is responsible for producing a protein called fibrocystin. This protein plays a crucial role in the development and maintenance of bile ducts and kidney tubules. Mutations in the PKHD1 gene lead to abnormal bile duct development and fibrosis in the liver.
CHF follows an autosomal recessive inheritance pattern. This means that a child must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Parents who carry one copy of the mutated gene are considered carriers and typically do not show symptoms.
Symptoms of CHF can vary widely and may not be apparent until later in childhood or adolescence. Common symptoms include hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and portal hypertension. Complications can include variceal bleeding, ascites, and hypersplenism. In severe cases, CHF can lead to liver failure.
Diagnosis of CHF often involves a combination of clinical evaluation, family history, and imaging studies such as ultrasound or MRI. A liver biopsy may be necessary to confirm the diagnosis by revealing the characteristic fibrosis and abnormal bile ducts.
There is no cure for CHF, and treatment primarily focuses on managing symptoms and complications. This may include medications to control portal hypertension, such as beta-blockers, and procedures to control variceal bleeding, such as endoscopic banding. In severe cases, liver transplantation may be considered.
The prognosis for children with CHF varies depending on the severity of the condition and the presence of other associated diseases, such as ARPKD. With proper management, many children can lead relatively normal lives. However, some may develop significant complications that can affect their quality of life and life expectancy.
Families dealing with CHF can benefit from genetic counseling to understand the risks and implications of the disorder. Support groups and resources from organizations specializing in liver diseases can also provide valuable information and emotional support.
