Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Epidemiological study of a von Hippel-Lindau family in northwest China.
[von hippel-lindau disease]
von
Hippel-
Lindau
(
VHL
)
disease
is
a
rare
,
inherited
neoplastic
disease
characterized
by
hemangioblastomas
(
HBL
)
of
the
central
nervous
system
(
CNS
)
,
retinal
angiomas
,
renal
cell
carcinomas
(
RCC
)
,
pancreatic
endocrine
tumors
(
PETs
)
,
pheochromocytomas
,
paragangliomas
,
and
visceral
cysts
.
We
encountered
a
large
VHL
family
in
northwest
China
and
conducted
a
systematic
screening
of
the
family
members
based
on
their
epidemiological
and
clinical
characteristics
.
A
self-designed
questionnaire
was
used
to
collect
the
general
sociodemographic
and
health
information
of
the
family
members
.
For
the
preliminary
family
screening
,
physical
examination
and
abdomen
B
ultrasonography
were
performed
.
The
suspected
patients
were
subjected
to
cranial
computerized
tomography
and
fundus
examination
.
The
clinical
data
of
the
patients
with
confirmed
VHL
disease
were
collected
from
hospital
records
.
A
total
of
63
lineal
descendants
in
six
generations
were
observed
in
the
family
(
generations
O
,
A
,
B
,
C
,
D
,
E
)
,
including
9
dead
suspected
cases
(
6
males
,
3
females
)
and
10
living
cases
(
2
males
,
8
females
)
.
Among
the
10
living
cases
,
4
,
2
,
1
,
3
,
4
,
8
,
and
2
manifested
HBLs
of
the
CNS
,
PETs
,
RCC
,
pancreatic
cysts
,
renal
cysts
,
pheochromocytomas
(
4
hemi
and
4
bilateral
)
,
and
paragangliomas
,
respectively
.
Data
showed
that
the
morbidity
of
VHL
disease
in
generation
C
was
lower
than
that
in
generation
B
,
but
the
age
of
onset
was
younger
.
This
study
is
the
first
to
report
VHL
disease
in
northwest
China
and
VHL
-associated
PET
cases
in
Chinese
.
Therefore
,
follow-up
checkups
of
the
family
should
be
focused
on
younger
generations
.
Proper
family
screening
protocols
should
be
followed
for
the
treatment
of
patients
with
VHL
disease
.
Diseases
Validation
Diseases presenting
"paragangliomas"
symptom
adrenal incidentaloma
cowden syndrome
von hippel-lindau disease
This symptom has already been validated
