Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Progressive familial intrahepatic cholestasis.

Giulia Martina Cavestro1, Luca Frulloni, Elena Cerati

  • 1Dept. of Clinical Science, Chair of Gastroenterology, University of Parma, Parma. giuliamartina@yahoo.it

Acta Bio-Medica : Atenei Parmensis
|February 25, 2003
PubMed
Summary

Progressive familial intrahepatic cholestasis (PFIC) encompasses genetic liver diseases in children. Mutations in ATP8B1, BSEP, and MDR genes cause PFIC types 1, 2, and 3, respectively, leading to liver failure.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

The Evolving Role of Eosinophils in Eosinophilic Esophagitis: Mechanisms, Crosstalk, and Therapeutic Perspectives.

Cells·2026
Same author

Novel approaches to liquid biopsy in pancreatic cancer.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·2026
Same author

Atrophic gastritis of the stomach: a proposal for non-invasive diagnostic algorithm.

Journal of gastrointestinal and liver diseases : JGLD·2026
Same author

Pancreatic cystic lesions: position paper of the SIRM-AISP multidisciplinary group.

La Radiologia medica·2026
Same author

Obexelimab for the Treatment of IgG4-Related Disease.

The New England journal of medicine·2026
Same author

Endoscopic ultrasound through-the-needle biopsy of pancreatic cystic neoplasms: Update on indications, safety profile, and research directions.

Best practice & research. Clinical gastroenterology·2026

Area of Science:

  • Hepatology
  • Genetics
  • Pediatric Gastroenterology

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited liver diseases in children.
  • PFIC presents with varying genetic causes and clinical manifestations, including cholestasis and liver failure.

Purpose of the Study:

  • To review the genetic basis and clinical features of PFIC types 1, 2, and 3.
  • To discuss current therapeutic strategies for PFIC.

Main Methods:

  • Review of literature on PFIC genetics and clinical presentations.
  • Analysis of therapeutic interventions for different PFIC subtypes.

Main Results:

  • PFIC 1 (Byler disease) involves ATP8B1 gene mutations, presenting early with cholestasis.

Related Experiment Videos

  • PFIC 2 is linked to Bile Salt Export Pump (BSEP) defects, causing similar symptoms.
  • PFIC 3, associated with MDR gene mutations, appears later and carries risks of portal hypertension and liver failure.

    • Conclusions:

    • PFIC subtypes have distinct genetic origins and clinical trajectories.
    • While external biliary diversion and ursodeoxycholic acid are initial options, liver transplantation remains a primary treatment for many PFIC patients.