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.

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