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Sirolimus decreases circulating lymphangioleiomyomatosis cells in patients with lymphangioleiomyomatosis.
[lymphangioleiomyomatosis]
Lymphangioleiomyomatosis
(
LAM
)
,
sporadic
or
in
women
with
tuberous
sclerosis
complex
(
TSC
)
,
is
characterized
by
cystic
lung
destruction
,
lymphatic
involvement
(
eg
,
chylous
pleural
effusions
,
lymphangioleiomyomas
)
,
and
renal
angiomyolipomas
(
AMLs
)
.
The
multisystem
manifestations
of
LAM
appear
to
result
from
metastatic
dissemination
of
LAM
cells
bearing
inactivating
mutations
or
having
loss
of
heterozygosity
(
LOH
)
of
the
tumor
suppressor
genes
TSC
1
or
TSC
2
,
which
leads
to
hyperactivation
of
the
mammalian
target
of
rapamycin
.
Sirolimus
slows
the
decline
of
lung
function
,
reduces
chylous
effusions
,
and
shrinks
the
size
of
AMLs
.
The
purpose
of
this
study
was
to
determine
the
effect
of
sirolimus
on
circulating
LAM
cells
.
Cells
from
blood
were
isolated
by
a
density-gradient
fractionation
system
and
from
urine
and
chylous
effusions
by
centrifugation
.
Blood
cells
were
incubated
with
anti-
CD
4
5
-
fluorescein
isothiocyanate
(
FITC
)
and
anti-
CD
2
35
a-
R-
phycoerythrin
(
PE
)
antibodies
,
and
urine
and
chylous
effusion
cells
were
incubated
with
anti-
CD
4
4
v
6
-
FITC
and
anti-
CD
9
-
R-PE
antibodies
.
Cells
were
sorted
and
analyzed
for
TSC
2
LOH
.
LAM
cells
with
TSC
2
LOH
were
identified
in
100
%
of
blood
specimens
and
75
%
of
urine
samples
from
patients
before
therapy
.
Over
a
mean
duration
of
2
.
2
±
0
.
4
years
of
sirolimus
therapy
,
detection
rates
of
LAM
cells
were
significantly
decreased
to
25
%
in
blood
(
P
&
lt
;
.
001
)
and
8
%
in
urine
(
P
=
.
003
)
.
Following
therapy
,
a
greater
loss
of
circulating
LAM
cells
was
seen
in
postmenopausal
patients
(
P
=
.
025
)
.
Patients
receiving
sirolimus
had
a
progressive
loss
of
circulating
LAM
cells
that
depended
on
time
of
treatment
and
menopausal
status
.
Diseases
Validation
Diseases presenting
"tumor suppressor genes"
symptom
cowden syndrome
dedifferentiated liposarcoma
esophageal adenocarcinoma
lymphangioleiomyomatosis
oral submucous fibrosis
pleomorphic liposarcoma
proteus syndrome
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