Progressive Familial Intrahepatic Cholestasis 4




Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition with early childhood onset of severe progressive liver disease. Children are unable to drain bile from the liver even though the large bile ducts are open (called cholestasis). Most patients require liver transplant in childhood


The list of signs and symptoms mentioned in various sources for XY includes the symptoms listed below:

  • Intrahepatic cholestasis
  • Liver failure
  • Portal hypertension
  • Elongated tight junctions between adjacent hepatocytes and biliary canaliculi seen on biopsy


Progressive familial intrahepatic cholestasis-4 (PFIC4) is caused by homozygous mutation in the TJP2 gene on chromosome 9q12.