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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
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
