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benign recurrent intrahepatic cholestasis (BRIC, Summerskill syndrome)
Pathology:
- initial elevation of serum bile acids, followed by cholestatic jaundice
- no extrahepatic bile duct obstruction
Genetics:
- associated with mutation in the ATP8B1 (type 1)
- associated with defects in ABCB11 (type 2)
Clinical manifestations:
- intermittent episodes of cholestasis without progression to liver failure
- initial elevation of serum bile acids, followed by
- cholestatic jaundice which generally spontaneously resolves after periods of weeks to months
- cholestatic attacks vary in severity & duration
- patients are asymptomatic between episodes, both clinically & biochemically
Laboratory:
- liver function tests
General
familial intrahepatic cholestasis
Database Correlations
OMIM correlations
References
OMIM :accession 605479