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Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
[benign recurrent intrahepatic cholestasis]
Progressive
familial
intrahepatic
cholestasis
(
PFIC
)
type
1
,
2
and
3
are
due
to
mutations
in
ATP
8
B
1
,
ABCB
11
and
ABCB
4
,
respectively
.
Each
of
these
genes
encodes
a
hepatocanalicular
transporter
,
which
is
essential
for
the
proper
formation
of
bile
.
Mutations
in
ABCB
4
can
result
in
progressive
cholestatic
disease
,
while
mutations
in
ATP
8
B
1
and
ABCB
11
can
result
both
in
episodic
cholestasis
,
referred
to
as
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
type
1
and
2
,
as
well
as
in
progressive
cholestatic
disease
.
This
suggests
a
clinical
continuum
and
these
diseases
are
therefore
preferably
referred
to
as
ATP
8
B
1
deficiency
and
ABCB
11
deficiency
.
Similarly
PFIC
type
3
is
designated
as
ABCB
4
deficiency
.
Heterozygous
mutations
in
each
of
these
transporters
can
also
be
associated
with
intrahepatic
cholestasis
of
pregnancy
.
This
review
summarizes
the
pathophysiology
,
clinical
features
and
current
as
well
as
future
therapeutic
options
for
progressive
familial-
and
benign
recurrent
intrahepatic
cholestasis
as
well
as
intrahepatic
cholestasis
of
pregnancy
.
