Rare Diseases Symptoms Automatic Extraction
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The bile salt export pump (BSEP) in health and disease.
[benign recurrent intrahepatic cholestasis]
The
bile
salt
export
pump
(
BSEP
)
is
the
major
transporter
for
the
secretion
of
bile
acids
from
hepatocytes
into
bile
in
humans
.
Mutations
of
BSEP
are
associated
with
cholestatic
liver
diseases
of
varying
severity
including
progressive
familial
intrahepatic
cholestasis
type
2
(
PFIC
-
2
)
,
benign
recurrent
intrahepatic
cholestasis
type
2
(
BRIC
-
2
)
and
genetic
polymorphisms
are
linked
to
intrahepatic
cholestasis
of
pregnancy
(
ICP
)
and
drug-induced
liver
injury
(
DILI
)
.
Detailed
analysis
of
these
diseases
has
considerably
increased
our
knowledge
about
physiology
and
pathophysiology
of
bile
secretion
in
humans
.
This
review
focuses
on
expression
,
localization
,
and
function
,
short
-
and
long
-term
regulation
of
BSEP
as
well
as
diseases
association
and
treatment
options
for
BSEP-associated
diseases
.
Diseases
Validation
Diseases presenting
"intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
zellweger syndrome
This symptom has already been validated
