Tuesday 31 May 2011

Bylers Disease (PFIC 1)

Byler's Disease Facts:
  • Form of progressive familial intrahepatic cholestasis (PFIC).
  • Known as PFIC 1.
  • Named after the Amish Byler family, where the condition was first identified.
Clinical Features:
  • Onset near end of first year of life.
  • Presents with pruritus & hepatomegaly.
  • Elevated bile acids in the serum.
  • Gamma GT either normal or reduced.
  • Malabsorption & developmental disorders occur as a result of jaundice with cholestasis.
  • Liver cirrhosis & hepatoma frequently develop.
  • Childhood chronic bronchitis is common.
  • Life expectancy - between 3-20 years.
Pathogenesis:
  • Genetic mutation on chromosome 18q21-22.
  • Mutation occurs in liver & other epithelial body tissue.
  • Impairment of aminophospholipid transport.
  • Defect found in canalicular membrane of hepatocytes & apical membrane of cholangiocytes.
Tags: Aminophospholipid - Amish - Byler's Disease - Cholestasis - Jaundice - PFIC - Progressive Familial Intrahepatic Cholestasis
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