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North American Indian childhood cirrhosis (NAIC)
Epidemiology:
- originally described in Ojibway-Cree children from northwestern Quebec
Pathology:
- intrahepatic cholestasis
- biliary cirrhosis, fibrosis around bile ducts
- biochemical & histopathological features suggest involvement of bile ducts rather than of bile canaliculi
Genetics:
- autosomal recessive
- associated with defects in CIRH1A
Clinical manifestations:
- transient neonatal jaundice, in a child who is otherwise healthy
- progresses to biliary cirrhosis & portal hypertension
Laboratory:
- elevated gamma glutamyltransferase & alkaline phosphatase levels
General
genetic disease of the liver
cirrhosis
Database Correlations
OMIM 604901
References
OMIM :accession 604901