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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
"respectively"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
harlequin ichthyosis
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
kallmann syndrome
lamellar ichthyosis
liposarcoma
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyruvate dehydrogenase deficiency
scrub typhus
triple a syndrome
von hippel-lindau disease
well-differentiated liposarcoma
wolf-hirschhorn syndrome
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