Rare Diseases Symptoms Automatic Extraction
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Role of serum vascular endothelial growth factor D in discrimination of patients with polycystic lung diseases.
[lymphangioleiomyomatosis]
Polycystic
lung
diseases
(
PLDs
)
include
numerous
rare
diseases
including
lymphangioleiomyomatosis
(
LAM
)
,
pulmonary
Langerhans
cell
histiocytosis
(
PLCH
)
,
and
lymphocytic
interstitial
pneumonia
.
In
these
cases
,
diagnosis
is
based
on
a
histological
examination
of
open
lung
biopsy
samples
;
however
,
it
is
not
always
possible
to
perform
this
procedure
.
Serum
markers
characteristic
for
a
given
entity
are
still
being
sought
.
The
aim
of
the
study
was
to
determine
the
usefulness
of
assessing
serum
vascular
endothelial
growth
factor
D
(
VEGF‑D
)
concentration
in
the
differential
diagnosis
of
LAM
and
other
PLDs
(
OPLDs
)
.
Serum
VEGF‑D
levels
were
measured
by
an
enzyme‑linked
immunosorbent
assay
in
75
patients
with
PLDs
including
29
women
with
LAM
and
46
patients
with
OPLDs
(
28
women
and
18
men
)
.
Serum
VEGF‑D
levels
were
significantly
higher
in
patients
with
LAM
(
median
,
1557
pg
/
ml
;
interquartile
range
[
IQR
]
,
636
-
2593
pg
/
ml
)
than
in
all
patients
with
OPLDs
(
median
,
292
pg
/
ml
;
IQR
,
233
-
405
pg
/
ml
,
P
<
0
.
0001
)
or
than
in
women
with
OPLDs
(
median
,
344
pg
/
ml
;
IQR
,
243
-
452
pg
/
ml
,
P
<
0
.
0001
)
.
The
serum
VEGF‑D
level
exceeding
468
pg
/
ml
identified
LAM
patients
with
the
specificity
of
90
%
and
sensitivity
of
87
%
(
area
under
the
curve
of
0
.
908
;
95
%
confidence
interval
,
0
.
820
-
0
.
996
)
.
In
none
of
the
patients
with
OPLDs
serum
VEGF‑D
concentrations
exceeded
800
pg
/
ml
.
An
increased
serum
VEGF‑D
level
is
a
highly
specific
biomarker
useful
in
a
differential
diagnosis
of
LAM
and
OPLDs
.
Diseases
Validation
Diseases presenting
"pneumonia"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
allergic bronchopulmonary aspergillosis
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
heparin-induced thrombocytopenia
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
lamellar ichthyosis
legionellosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
oculocutaneous albinism
omenn syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated