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Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
is
an
uncommon
cause
of
hypercalcemia
that
arises
from
mutations
in
the
calcium-sensing
receptor
gene
.
Inactivation
of
this
receptor
leads
to
a
decreased
receptor
sensitivity
to
calcium
,
determining
that
higher
concentrations
of
calcium
are
needed
to
inhibit
the
release
of
parathormone
in
the
parathyroid
glands
.
Patients
usually
are
asymptomatic
.
Diagnosis
is
usually
made
casually
after
a
routine
blood
analysis
.
The
syndrome
is
characterized
by
mild
or
moderate
hypercalcemia
,
hypocalciuria
,
and
normal
or
slightly
increased
levels
of
parathormone
.
The
degree
of
hypercalcemia
depends
on
the
type
of
mutation
.
The
accurate
diagnosis
is
important
since
it
is
a
benign
disorder
that
does
not
require
medical
or
surgical
treatment
.
We
report
a
9
-
year
-old
female
with
persistent
hypercalcemia
in
several
routine
blood
analyses
,
who
was
diagnosed
with
familial
hypocalciuric
hypercalcemia
after
genetic
studies
were
performed
.
A
new
mutation
determining
a
nucleotide
change
c
.
2089
G
>
A
in
the
calcium-sensing
receptor
gene
(
exon
7
)
was
detected
.
This
mutation
was
also
found
in
the
patient
's
mother
and
brother
.
Diseases
Validation
Diseases presenting
"who was diagnosed with familial hypocalciuric hypercalcemia after genetic studies were performed"
symptom
familial hypocalciuric hypercalcemia
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