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Cholestasis in a patient with gallstones and a normal gamma-glutamyl transferase.
[benign recurrent intrahepatic cholestasis]
Cholestasis
with
normal
gamma
glutamyl
transferase
characterizes
functional
deficiencies
in
the
gene
ABCB
11
,
which
encodes
the
bile
salt
export
pump
(
BSEP
)
,
a
liver
-
specific
adenosine
triphosphate
(
ATP
)
-
binding
cassette
transporter
.
Here
we
report
the
case
of
a
patient
presenting
with
features
of
benign
recurrent
intrahepatic
cholestasis
associated
with
a
heterozygous
mutation
in
the
ABCB
11
gene
.
Immunohistochemistry
showed
a
gradual
decrease
of
BSEP
from
zone
1
to
zone
3
of
the
liver
lobule
,
suggesting
that
the
mutation
identified
here
may
predispose
patients
to
cholestasis
through
a
delocalization
process
of
BSEP
at
the
lobular
level
.
(
HEPATOLOGY
2013
;
57
:
2539
-
2541
)
.
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
