Congenital hepatic fibrosis

Congenital hepatic fibrosis is a rare genetic disorder characterized by the malformation of the liver's bile ducts and the development of fibrosis, or scarring, within the liver. This condition is typically inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected.

Pathophysiology

Congenital hepatic fibrosis is caused by mutations in genes that are involved in the development and function of the bile ducts. The most commonly implicated gene is PKHD1, which encodes the protein fibrocystin/polyductin. This protein is essential for the normal development of the bile ducts and the renal tubules. Mutations in this gene lead to the malformation of these structures, resulting in fibrosis and cyst formation.

Clinical Features

Patients with congenital hepatic fibrosis may present with a variety of symptoms, including:

• Portal hypertension
• Hepatosplenomegaly
• Variceal bleeding
• Cholangitis
• Renal cysts

The severity of symptoms can vary widely among individuals, even within the same family.

Diagnosis

The diagnosis of congenital hepatic fibrosis is typically made based on clinical findings, imaging studies, and sometimes genetic testing. Ultrasound and MRI can reveal characteristic changes in the liver and kidneys. Genetic testing can confirm mutations in the PKHD1 gene.

Management

There is no cure for congenital hepatic fibrosis, and treatment is primarily supportive. Management strategies may include:

• Monitoring and managing portal hypertension
• Treating complications such as variceal bleeding and cholangitis
• Liver transplantation in severe cases

Prognosis

The prognosis for individuals with congenital hepatic fibrosis varies depending on the severity of the liver and kidney involvement. Some individuals may have a relatively normal life expectancy, while others may experience significant complications that can affect their quality of life.

Related Pages

• Autosomal recessive disorder
• Bile duct
• Fibrosis
• Polycystic kidney disease

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  Congenital hepatic fibrosis