Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Depletion of high-density lipoprotein and appearance of triglyceride-rich low-density lipoprotein in a Japanese patient with FIC1 deficiency manifesting benign recurrent intrahepatic cholestasis.
[benign recurrent intrahepatic cholestasis]
Lipoprotein
metabolism
in
FIC
1
deficiency
due
to
ATP
8
B
1
mutations
has
never
been
studied
sufficiently
.
This
study
was
performed
to
investigate
the
detailed
lipoprotein
metabolism
in
benign
recurrent
intrahepatic
cholestasis
(
BRIC
)
caused
by
FIC
1
deficiency
.
Lipoprotein
profile
and
major
lipoprotein
regulators
such
as
lecithin
:
cholesterol
acyltransferase
(
LCAT
)
,
hepatic
triglyceride
lipase
(
HTGL
)
,
lipoprotein
lipase
,
and
cholesteryl
ester
transfer
protein
in
a
Japanese
patient
with
BRIC
were
serially
examined
during
a
bout
of
cholestasis
.
Liver
expression
of
farnesoid
X
receptor
(
FXR
)
,
which
suppresses
high
-density
lipoprotein
(
HDL
)
generation
,
was
also
examined
.
Hypercholesterolemia
and
lipoprotein
X
accumulation
were
never
observed
throughout
this
study
.
When
the
cholestasis
was
severe
,
triglyceride-rich
low
-density
lipoprotein
(
LDL
)
accounted
for
most
of
the
plasma
lipoproteins
whereas
HDL
was
hardly
detectable
.
Concurrently
,
activities
of
all
regulators
were
decreased
,
together
with
decreases
of
the
serum
parameter
for
liver
protein
synthesis
.
In
particular
,
suppressions
of
LCAT
and
HTGL
activities
were
severe
and
greatly
contributed
to
the
appearance
of
triglyceride-rich
LDL
.
As
the
cholestasis
improved
,
this
LDL
gradually
transformed
into
normal
LDL
with
the
recoveries
of
LCAT
and
HTGL
activities
.
The
activities
of
all
regulators
for
the
last
1
to
2
months
were
normal
but
HDL
remained
depleted
.
His
liver
showed
low
FXR
expression
compared
with
control
livers
.
The
present
study
showed
an
appearance
of
triglyceride-rich
LDL
due
to
suppressions
of
LCAT
and
HTGL
activities
and
a
depletion
of
HDL
that
is
not
able
to
be
explained
by
lipoprotein
regulators
or
FXR
in
our
patient
.
Diseases
Validation
Diseases presenting
"intrahepatic cholestasis"
symptom
benign recurrent intrahepatic cholestasis
zellweger syndrome
This symptom has already been validated
