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The calcium-sensing receptor: physiology, pathophysiology and CaR-based therapeutics.
[familial hypocalciuric hypercalcemia]
The
extracellular
calcium
(
Ca
(
o
)
2
+
)
-
sensing
receptor
(
CaR
)
enables
the
parathyroid
glands
and
other
CaR-expressing
cells
to
sense
alterations
in
the
level
of
Ca
(
o
)
2
+
and
to
respond
with
changes
in
function
that
are
directed
at
normalizing
the
blood
calcium
concentration
.
In
addition
to
the
parathyroid
gland
,
the
kidney
is
a
key
site
for
Ca
(
o
)
2
(
+
)
-
sensing
that
enables
it
to
make
physiologically
relevant
alterations
in
divalent
cation
and
water
metabolism
.
Several
disorders
of
Ca
(
o
)
2
(
+
)
-
sensing
arise
from
inherited
or
acquired
abnormalities
that
"
reset
"
the
serum
calcium
concentration
upward
or
downward
.
Inactivating
mutations
produce
a
benign
form
of
hypercalcemia
when
present
in
the
heterozygous
state
,
termed
Familial
Hypocalciuric
Hypercalcemia
(
FHH
)
,
while
homozygous
mutations
produce
a
much
more
severe
hypercalcemic
disorder
resulting
from
marked
hyperparathyroidism
,
called
Neonatal
Severe
Hyperparathyroidism
(
NSHPT
)
.
Activating
mutations
cause
a
hypocalcemic
syndrome
of
varying
severity
,
termed
autosomal
dominant
hypocalcemia
or
hypoparathyroidism
.
Inactivating
or
activating
antibodies
directed
at
the
CaR
produce
the
expected
hyper-
or
hypocalcemic
syndromes
,
respectively
.
"
Calcimimetic
"
CaR
activators
and
"
calcilytic
"
CaR
antagonists
have
been
developed
.
The
calcimimetics
are
currently
in
use
for
controlling
severe
hyperparathyroidism
in
patients
receiving
dialysis
treatment
for
end
stage
renal
disease
or
with
parathyroid
cancer
.
Calcilytics
are
being
evaluated
as
a
means
of
inducing
a
"
pulse
"
in
the
circulating
parathyroid
hormone
(
PTH
)
concentration
,
which
would
mimic
that
resulting
from
injection
of
PTH
,
an
established
anabolic
form
of
treatment
for
osteoporosis
.
Diseases
Validation
Diseases presenting
"a benign form of hypercalcemia when present in the heterozygous state"
symptom
familial hypocalciuric hypercalcemia
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