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Table 1 Main characteristics of Progressive Familial Intrahepatic Cholestasis (PFIC)

From: Progressive familial intrahepatic cholestasis

  PFIC1
(Byler's disease)
PFIC2
(BSEP deficiency)
PFIC3
(MDR3 deficiency)
Transmission autosomal recessive autosomal recessive autosomal recessive
Pruritus severe severe moderate
Serum GGT activity normal normal high
Ductular proliferation absent absent present
Serum primary bile acid
concentration
very high very high high
Bile composition low
primary bile acid
concentration
very low
primary bile acid
concentration
low
phospholipid
concentration
Chromosomal locus 18q21-22 2q24 7q21
Gene/protein ATP8B1
FIC1
ABCB11
BSEP
ABCB4
MDR3
Hepatocyte location canalicular membrane canalicular membrane canalicular membrane
Other sites of expression Cholangiocytes
Intestine, Pancreas
none none
Functional defect ATP-dependent
aminophospholipid transport
ATP-dependent
bile acid transport
in bile
ATP-dependent phosphatidylcholine translocation in bile