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FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
[benign recurrent intrahepatic cholestasis]
FIC
1
disease
collectively
refers
to
a
group
of
autosomal-recessive
familial
liver
disorders
characterized
by
intrahepatic
cholestasis
due
to
mutations
in
the
ATP
8
B
1
gene
(
initially
named
FIC
1
)
.
Classically
,
FIC
1
disease
comprises
two
different
disorders
:
progressive
familial
intrahepatic
cholestasis
type
1
(
PFIC
1
)
and
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
.
However
,
we
now
view
these
two
disorders
as
two
ends
of
a
continuum
.
Current
therapeutic
strategies
for
FIC
1
disease
,
both
medical
and
surgical
,
may
relieve
symptoms
,
but
are
presently
insufficiently
evaluated
.
ATP
8
B
1
encodes
a
protein
belonging
to
a
recently
defined
subfamily
of
P-
type
ATPases
.
The
biochemical
and
cellular
functions
of
its
product
,
FIC
1
,
and
the
mechanisms
by
which
its
absence
or
dysfunction
leads
to
cholestasis
are
currently
elusive
.
Further
studies
to
elucidate
FIC
1
's
function
will
be
essential
to
unravel
the
pathogenesis
of
FIC
1
disease
.
Such
studies
will
also
have
a
general
impact
on
our
understanding
of
the
molecular
mechanisms
of
bile
formation
and
may
therefore
improve
clinical
management
of
both
hereditary
and
acquired
forms
of
cholestasis
.
Diseases
Validation
Diseases presenting
"cholestasis"
symptom
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital toxoplasmosis
erythropoietic protoporphyria
familial mediterranean fever
megacystis-microcolon-intestinal hypoperistalsis syndrome
neonatal adrenoleukodystrophy
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
