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[Liver disease associated with hereditary defects of hepatobiliary transporters].
[benign recurrent intrahepatic cholestasis]
The
identification
of
biliary
tranporters
has
enhanced
our
understanding
of
bile
formation
and
some
liver
diseases
.
In
this
review
,
we
first
describe
the
main
hepatobiliary
transporters
and
their
function
.
Then
,
some
liver
diseases
related
to
mutations
of
biliary
tranporters
(
FIC
1
/
ATP
8
B
1
,
BSEP
/
ABCB
11
,
MDR
3
Â
/
ABCB
4
and
MRP
2
/
ABCC
2
)
will
be
described
with
a
focus
on
the
pathological
aspects
.
These
diseases
include
progressive
familial
intrahepatic
cholestasis
(
PFIC
)
,
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
,
intrahepatic
cholestasis
of
pregnancy
,
Dubin-
Johnson
's
syndrome
and
low
phospholipid
associated
cholelithiasis
(
LPAC
)
.
