Related Experiment Video
Updated: Jun 15, 2025

Isolation of Neonatal Extrahepatic Cholangiocytes
Published on: June 5, 2014
Familial intrahepatic cholestasis - An uncommon cause of jaundice in young patients
Ana Plaza Fernández1, Marta Fernández Carrasco2, Olga Sánchez García2
1Aparato Digestivo, Hospital Universitario Torrecárdenas, España.
Insights
Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic liver disease. This case highlights PFIC caused by myosin 5B gene mutations, emphasizing its early childhood onset and progression to liver failure.
Area of Science:
- Hepatology
- Genetics
- Pediatric Gastroenterology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) comprises a group of inherited bile secretion disorders.
- Characterized by chronic cholestasis, PFIC typically manifests in early childhood with jaundice, pruritus, and malabsorption.
- These conditions can rapidly lead to end-stage liver disease.
Abstract:
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders resulting from mutations in genes involved in bile secretion, characterized by chronic cholestasis. The onset is typically in early childhood, with main clinical manifestations including jaundice, pruritus, and symptoms related to malabsorption, which can rapidly progress to liver failure. We present a case of PFIC secondary to myosin 5B mutations.
Related Concept Videos
Diseases of the Liver and Gallbladder
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
Hepatic Portal System
At its core, the hepatic portal vein is the result of a confluence of the superior and inferior mesenteric veins along with the splenic vein. Each of these veins has a unique role. The superior mesenteric vein is...
Gallbladder
The gallbladder's anatomy consists of three regions: the fundus, body, and neck. Extending from the neck, the cystic duct joins...
Hepatic Drug Excretion: Influencing Factors
Chronic Pancreatitis II: Collaborative Care
Assessment:
Inborn Errors of Metabolism

