Rare Diseases Symptoms Automatic Extraction
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[Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene].
[von hippel-lindau disease]
Endolymphatic
sac
tumors
(
ELSTs
)
are
rare
in
the
general
population
with
much
higher
prevalence
in
von
Hippel-
Lindau
(
VHL
)
disease
.
The
purpose
of
this
study
is
to
present
two
cases
of
endolymphatic
sac
tumor
with
VHL
disease
with
analysis
of
VHL
gene
and
to
explore
their
association
with
VHL
disease
using
molecular
analysis
.
Clinical
data
of
these
two
patients
from
different
VHL
families
were
studied
.
DNAs
extracted
from
peripheral
bloods
were
amplified
by
the
polymerase
chain
reaction
using
oligonucleotide
primers
corresponding
to
the
VHL
gene
,
then
compared
the
mutations
with
the
Human
Gene
Mutation
Database
.
In
case
1
,
6
family
members
were
enrolled
in
the
study
.
Among
them
,
three
had
been
identified
to
have
a
germline
missense
point
mutation
at
codon
194
of
the
VHL
gene
exon
1
(
p
.
S
65
W
)
.
The
little
sister
of
the
patient
(
case
1
)
underwent
vitrectomy
for
retinal
hemangioblastoma
5
years
ago
in
another
hospital
.
The
mother
of
the
patient
(
case
1
)
was
further
diagnosed
to
have
a
cerebellar
hemangioblastoma
and
renal
carcinoma
in
the
following
physical
examination
.
Case
2
with
her
parents
were
also
tested
.
Codon
499
of
the
VHL
gene
exon
3
(
p
.
R
167
W
)
were
detected
in
case
2
and
her
mother
,
but
the
mother
refused
further
examination
.
The
genetic
diagnosis
plays
an
important
role
in
early
detection
of
symptomatic
patients
and
suspected
patients
.
Clinical
screening
for
members
of
the
VHL
families
,
and
close
follow-up
of
carriers
allow
an
early
detection
of
tumors
and
the
metastasis
,
which
is
the
most
common
cause
of
death
of
these
patients
.
Diseases
Validation
Diseases presenting
"cerebellar hemangioblastoma"
symptom
von hippel-lindau disease
This symptom has already been validated