Congenital Hepatic Fibrosis Overview
Learn About Congenital Hepatic Fibrosis
Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or removed from the body.
Syndromes that include congenital hepatic fibrosis may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown.
Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals.
The various syndromes that include congenital hepatic fibrosis can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have variants (also known as mutations). The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern, in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes.
Yale University
Mario Strazzabosco is a primary care provider, practicing in Internal Medicine in New Haven, Connecticut. Dr. Strazzabosco is rated as an Elite provider by MediFind in the treatment of Congenital Hepatic Fibrosis. His top areas of expertise are Congenital Hepatic Fibrosis, Cholangiocarcinoma (Bile Duct Cancer), Caroli Disease, Liver Transplant, and Hepatectomy.
Massimiliano Cadamuro practices in Monza, Italy. Mr. Cadamuro is rated as an Elite expert by MediFind in the treatment of Congenital Hepatic Fibrosis. His top areas of expertise are Congenital Hepatic Fibrosis, Cholangiocarcinoma (Bile Duct Cancer), Caroli Disease, Cholangitis, and Liver Transplant.
Virginia Interventional And Vascular Associates (VIVA)
Samer Hijaz is an Interventional Radiologist and a Radiologist in Fredericksburg, Virginia. Dr. Hijaz is rated as an Experienced provider by MediFind in the treatment of Congenital Hepatic Fibrosis. His top areas of expertise are Ascites, Visceromegaly, Cirrhosis, Gastrostomy, and Bone Marrow Aspiration.
Background: \- Noncirrhotic Portal Hypertension (NCPH) is caused by liver diseases that increase pressure in the blood vessels of the liver. It seems to start slowly and not have many warning signs. Many people may not even know that they have a liver disease. There are no specific treatments for NCPH.
Summary: polycystic kidney disease is aherditary disorder characterized by the formation of numerous fluid filled cysts in the kidneys which can lead to progressive renal impairment PKDencompasses aspectrum of disorders with autosomal dominant polycystic kidneydisease and autosomal recessive polycystic kidney disease being the two main types
Published Date: April 06, 2023
Published By: National Institutes of Health