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Muscle function and quality of life are not impaired in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene (CASR).
[familial hypocalciuric hypercalcemia]
Familial
hypocalciuric
hypercalcemia
(
FHH
)
is
often
due
to
inactivating
variants
in
the
calcium-sensing
receptor
(
CASR
)
gene
causing
chronically
elevated
plasma
calcium
levels
with
inappropriately
normal
or
elevated
parathyroid
hormone
levels
.
In
patients
with
primary
hyperparathyroidism
,
the
state
of
hyperparathyroid
hypercalcemia
is
associated
with
reduced
muscle
strength
and
impaired
quality
of
life
(
QoL
)
.
To
study
whether
FHH
affects
muscle
function
,
postural
stability
,
and
QoL
.
In
a
cross-sectional
study
,
we
investigated
muscle
strength
(
handgrip
,
elbow
flexion
/
extension
,
and
knee
flexion
/
extension
)
,
balance
function
,
physical
activity
,
and
QoL
in
50
patients
with
FHH
and
in
a
similar
number
of
age-
and
gender-matched
population-based
healthy
controls
.
All
but
one
of
the
FHH
cases
had
genetically
verified
inactivating
variants
in
the
CASR
gene
.
Studied
subjects
(
n
=
100
,
68
%
females
)
had
a
mean
age
of
56
.
0
years
.
Muscle
strength
as
assessed
by
measuring
maximum
force
and
maximum
force
production
did
not
differ
between
the
groups
.
Neither
did
groups
differ
in
terms
of
QoL
,
physical
activity
,
or
postural
stability
,
as
assessed
during
normal
standing
with
eyes
open
,
normal
standing
with
eyes
closed
,
semi-tandem
standing
,
or
tandem
standing
.
Adjustment
for
vitamin
D
status
(
plasma
25
-
hydroxyvitamin
D
levels
)
and
BMI
did
not
change
results
.
Despite
a
state
of
chronic
hypercalcemia
,
muscle
strength
,
balance
function
,
and
QoL
are
not
impaired
in
patients
with
FHH
.
Our
findings
are
reassuring
for
patients
with
FHH
as
they
should
not
be
considered
as
having
a
severe
disease
.
Diseases
Validation
Diseases presenting
"as assessed during normal standing with eyes open"
symptom
familial hypocalciuric hypercalcemia
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