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[Extracellular calcium sensing under normal and pathological conditions].
[familial hypocalciuric hypercalcemia]
Ionic
calcium
has
been
known
as
an
important
intracellular
second
messenger
for
many
decades
.
In
addition
,
a
whole
series
of
experimental
and
clinical
studies
from
the
past
fifteen
years
have
provided
evidence
that
extracellular
ionic
calcium
itself
is
also
a
first
messenger
,
since
it
is
the
ligand
of
a
cell
surface
G-
protein
coupled
receptor
called
calcium-sensing
receptor
.
This
review
summarizes
the
current
knowledge
on
the
role
of
calcium-sensing
receptor
in
the
maintenance
of
calcium
homeostasis
,
its
functions
in
various
tissues
and
some
of
the
most
important
disorders
characterized
by
defective
calcium
sensing
.
The
inherited
disorders
of
the
calcium
-sensing
receptors
may
be
classified
as
the
results
of
loss
-of-function
and
gain-of-function
mutations
of
the
calcium-sensing
receptor
gene
.
Loss
-of-function
heterozygous
mutations
lead
to
familial
hypocalciuric
hypercalcemia
while
homozygous
mutations
result
in
the
frequently
life-threatening
disorder
called
neonatal
severe
hyperparathyroidism
.
Gain-of-function
mutations
of
this
receptor
's
gene
cause
the
disorder
called
autosomal
dominant
hypocalcemia
.
The
authors
briefly
highlight
the
clinical
features
,
laboratory
characteristics
and
therapeutic
implications
of
these
disorders
.
Also
,
they
discuss
briefly
the
molecular
mechanisms
resulting
defective
calcium
-sensing
in
of
patients
with
primary
and
secondary
hyperparathyroidism
,
and
summarize
the
results
of
some
recent
investigations
on
the
functional
consequences
of
genetic
variants
of
the
calcium-sensing
receptor
gene
.
