see Intrahepatic cholestasis: progressive familial

Acronym for Benign Recurrent Intrahepatic Cholestasis

(Benign Intrahepatic Cholestasis)

Minor and benign form (no evolution to fibrosis or cirrhosis) of genetic intrahepatic cholestasis. The serum levels of γGT and chesterol are normal.

Two types have been identified:

-        BRIC1 [MIM 243 000] or Summerskill syndrome: autosomal recessive transmission of a mutation of the FIC1 or ATP8B1 gene (18q21-22)

-        BRIC2 [MIM 605 479]: autosomal recessive transmission of a mutation of the ABCB11 gene (2q24)