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Main characteristics of Progressive Familial Intrahepatic Cholestasis (PFIC) |
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| PFIC1 (Byler's disease) |
PFIC2 (BSEP deficiency) |
PFIC3 (MDR3 deficiency) |
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| Transmission |
autosomal recessive |
autosomal recessive |
autosomal recessive |
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| Pruritus |
severe |
severe |
moderate |
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| Serum GGT activity |
normal |
normal |
high |
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| Ductular proliferation |
absent |
absent |
present |
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| Serum primary bile acid concentration |
very high |
very high |
high |
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| Bile composition |
low primary bile acid concentration |
very low primary bile acid concentration |
low phospholipid concentration |
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| Chromosomal locus |
18q21-22 |
2q24 |
7q21 |
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| Gene/protein |
ATP8B1 FIC1 |
ABCB11 BSEP |
ABCB4 MDR3 |
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| Hepatocyte location |
canalicular membrane |
canalicular membrane |
canalicular membrane |
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| Other sites of expression |
Cholangiocytes Intestine, Pancreas |
none |
none |
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| Functional defect |
ATP-dependent aminophospholipid transport |
ATP-dependent bile acid transport in bile |
ATP-dependent phosphatidylcholine translocation in bile |
Davit-Spraul et al. Orphanet Journal of Rare Diseases 2009 4:1 doi:10.1186/1750-1172-4-1 |
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