Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Analysis of pheochromocytomas / paragangliomas from Eastern Slovakia.
[adrenal incidentaloma]
This
multi
centre
observational
cohort
study
gives
a
view
about
the
occurrence
,
clinical
and
laboratory
presentation
,
localization
,
histological
type
and
genetic
background
of
pheochromocytoma
(
PHEO
)
and
paraganglioma
(
PGL
)
in
Eastern
Slovakia
.
It
included
28
patients
(
18
women
+
10
men
)
,
of
which
23
were
diagnosed
to
have
PHEO
(
82
,
1
%
)
and
7
patients
(
25
%
)
suffered
from
PGL
with
retroperitoneal
,
inguinal
/
pelvic
and
mediastinal
distribution
.
Arterial
hypertension
was
the
major
symptom
present
in
86
%
with
slight
dominance
of
paroxysmal
form
(
58
%
)
.
In
3
cases
(
10
,
7
%
)
,
the
diagnosis
was
gained
after
differentiation
of
adrenal
incidentaloma
in
asymptomatic
patients
.
Five
patients
(
17
,
8
%
)
were
classified
to
have
malignant
form
of
the
disease
.
9
patients
(
32
,
1
%
)
were
confirmed
to
have
hereditary
form
-
five
of
them
(
17
,
8
%
)
with
familiar
medullar
thyroid
cancer
(
FMTC
)
and
mutations
in
RET
gene
classified
as
multiple
endocrine
neoplasia
2
A
and
4
patients
(
14
,
3
%
)
with
germline
mutations
of
SDHB
gene
,
respectively
.
There
was
found
a
relatively
high
occurrence
of
other
co
-morbidities
:
thyroid
disease
in
20
patients
(
71
,
4
%
)
,
impairment
of
glucose
metabolism
in
11
patients
(
39
,
3
%
)
and
apart
from
FMTC
,
4
patients
(
14
,
3
%
)
suffered
also
from
other
malignancy
.
Together
with
a
bigger
size
of
the
primary
tumor
(
6
,
6
cm
)
,
higher
concentrations
of
metanephrines
and
prevalence
of
extra
-
adrenal
tumors
,
malignant
and
hereditary
forms
,
we
suppose
genetic
and
environmental
factors
of
Eastern
Slovakia
may
play
a
role
in
the
etiopathogenesis
of
the
tumors
.
Diseases
Validation
Diseases presenting
"hypertension"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
cadasil
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kallmann syndrome
kindler syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
pendred syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
sneddon syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated
