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The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease.
[benign recurrent intrahepatic cholestasis]
The
primary
transporter
responsible
for
bile
salt
secretion
is
the
bile
salt
export
pump
(
BSEP
,
ABCB
11
)
,
a
member
of
the
ATP-binding
cassette
(
ABC
)
superfamily
,
which
is
located
at
the
bile
canalicular
apical
domain
of
hepatocytes
.
In
humans
,
BSEP
deficiency
results
in
several
different
genetic
forms
of
cholestasis
,
which
include
progressive
familial
intrahepatic
cholestasis
type
2
(
PFIC
2
)
,
benign
recurrent
intrahepatic
cholestasis
type
2
(
BRIC
2
)
,
as
well
as
other
acquired
forms
of
cholestasis
such
as
drug-induced
cholestasis
(
DIC
)
and
intrahepatic
cholestasis
of
pregnancy
(
ICP
)
.
Because
bile
salts
play
a
pivotal
role
in
a
wide
range
of
physiologic
and
pathophysiologic
processes
,
regulation
of
BSEP
expression
has
been
a
subject
of
intense
research
.
The
authors
briefly
describe
the
molecular
characteristics
of
BSEP
and
then
summarize
what
is
known
about
its
role
in
the
pathogenesis
of
genetic
and
acquired
cholestatic
disorders
,
emphasizing
experimental
observations
from
animal
models
and
cell
culture
in
vitro
systems
.
Diseases
Validation
Diseases presenting
"intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
zellweger syndrome
This symptom has already been validated
