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p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees.
[von hippel-lindau disease]
Von
Hippel-
Lindau
(
VHL
)
disease
is
an
autosomal
dominant
familial
cancer
syndrome
.
VHL
is
characterized
by
the
development
of
renal
cell
carcinoma
(
RCC
)
,
hemangioblastomas
of
the
central
nervous
system
or
retina
and
pheochromocytoma
(
PCC
)
.
RCC
and
PCC
are
known
to
be
caused
by
germline
mutations
of
six
and
ten
genes
,
respectively
.
In
the
present
study
,
30
individuals
from
two
unrelated
pedigrees
with
type
2
A
and
2
C
VHL
syndrome
were
investigated
.
The
patients
were
clinically
examined
and
treated
by
radical
nephrectomy
[
or
nephron‑sparing
surgery
(
NSS
)
]
and
cortical
-sparing
adrenalectomy
(
CSA
)
,
and
all
members
of
the
two
families
underwent
genetic
screening
.
Two
members
from
the
first
family
were
diagnosed
with
PCC
and
RCC
,
and
three
individuals
from
the
second
family
who
had
only
hypertension
were
diagnosed
with
PCC
.
Heterozygous
variants
of
the
VHL
gene
,
c
.
A
233
G
(
p
.
N
78
S
)
within
exon
1
and
c
.
G
482
A
(
p
.
R
161
Q
)
within
exon
3
,
were
verified
,
respectively
.
Surgery
was
performed
on
all
the
patients
,
with
the
exception
of
an
asymptomatic
5
-
year
-old
p
.
N
78
S
male
in
family
1
,
in
addition
to
genetic
testing
and
genetic
counseling
.
Further
patient
follow-up
was
warranted
with
regard
to
blood
pressure
and
health
,
although
normal
blood
pressure
and
no
local
recurrence
and
distant
metastasis
of
VHL
were
observed
previously
.
The
present
study
suggests
that
molecular
genetic
testing
may
aid
the
diagnosis
and
clinical
management
of
VHL
syndrome
.
Diseases
Validation
Diseases presenting
"further patient"
symptom
von hippel-lindau disease
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