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The role of the calcium-sensing receptor in human disease.
[familial hypocalciuric hypercalcemia]
Following
the
discovery
of
the
calcium-sensing
receptor
(
CaSR
)
in
1993
,
its
pivotal
role
in
disorders
of
calcium
homeostasis
such
as
Familial
Hypocalciuric
Hypercalcemia
(
FHH
)
was
quickly
demonstrated
.
Since
then
,
it
has
become
clear
that
the
CaSR
has
immense
functional
versatility
largely
through
its
ability
to
activate
many
different
signaling
pathways
in
a
ligand-
and
tissue-
specific
manner
.
This
allows
the
receptor
to
play
diverse
and
crucial
roles
in
human
physiology
and
pathophysiology
,
both
in
calcium
homeostasis
and
in
tissues
and
biological
processes
unrelated
to
calcium
balance
.
This
review
covers
current
knowledge
of
the
role
of
the
CaSR
in
disorders
of
calcium
homeostasis
(
FHH
,
neonatal
severe
hyperparathyroidism
,
autosomal
dominant
hypocalcemia
,
primary
and
secondary
hyperparathyroidism
,
hypercalcemia
of
malignancy
)
as
well
as
unrelated
diseases
such
as
breast
and
colorectal
cancer
(
where
the
receptor
appears
to
play
a
tumor
suppressor
role
)
,
Alzheimer
's
disease
,
pancreatitis
,
diabetes
mellitus
,
hypertension
and
bone
and
gastrointestinal
disorders
.
In
addition
,
it
examines
the
use
or
potential
use
of
CaSR
agonists
or
antagonists
(
calcimimetics
and
calcilytics
)
and
other
drugs
mediated
through
the
CaSR
,
in
the
management
of
disorders
as
diverse
as
hyperparathyroidism
,
osteoporosis
and
gastrointestinal
disease
.
Diseases
Validation
Diseases presenting
"hypercalcemia"
symptom
carcinoma of the gallbladder
cushing syndrome
familial hypocalciuric hypercalcemia
kabuki syndrome
severe combined immunodeficiency
waldenström macroglobulinemia
This symptom has already been validated