- Form of progressive familial intrahepatic cholestasis (PFIC).
- Known as PFIC 1.
- Named after the Amish Byler family, where the condition was first identified.
- 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.
- 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.
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