benign recurrent cholestasis
- benign recurrent cholestasis
- benign recurrent intrahepatic cholestasis an autosomal recessive form of intrahepatic cholestasis characterized by intermittent episodes of elevated serum bile acids followed by jaundice and pruritus; there is usually complete resolution of symptoms between the attacks. Two types exist: type 1 is caused by mutations in the ATP8B1 gene (locus: 18q21), which encodes the FIC1 protein, which plays a role in bile synthesis; type 2 is caused by mutations in the ABCB11 gene (locus: 2q24), which encodes an ABC transporter involved in bile salt transport.
Medical dictionary.
2011.
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