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[Calcium sensing receptor: physiology and pathology].
[familial hypocalciuric hypercalcemia]
Calcium
is
a
major
ion
in
human
metabolism
and
its
level
is
highly
controlled
.
This
regulation
is
performed
via
the
Calcium
Sensing
Receptor
,
a
discovery
which
ten
years
ago
led
to
the
explanation
of
a
number
of
clinical
disorders
.
The
syndromes
caused
by
CaSR
abnormalities
are
characterized
by
hypercalcemia
or
hypocalcemia
,
associated
with
inappropriate
calciuria
.
An
underlying
genetic
or
auto-immune
cause
may
be
demonstrated
.
High
blood
calcium
levels
linked
to
mutations
of
the
CaSR
gene
lead
to
familial
hypocalciuric
hypercalcemia
and
the
neonatal
and
non
neonatal
forms
with
severe
hypercalcemic
.
Hypocalcemia
determined
by
mutations
in
the
CaSR
gene
include
autosomal
dominant
hypocalcemia
and
its
sporadic
form
.
Another
clinical
presentation
similar
to
Bartter
syndrome
has
been
reported
.
Auto-antibodies
directed
against
CaSRs
,
seen
in
auto-immune
diseases
,
can
lead
to
similar
clinical
presentations
.
Finally
,
CaSR
polymorphisms
modulate
the
range
of
blood
calcium
levels
.
With
diagnosis
of
these
diseases
deleterious
therapeutics
can
be
avoided
.
The
discovery
of
this
receptor
has
led
to
new
therapeutic
prospects
such
as
calcimimetics
for
hyperthyroidism
.
Diseases
Validation
Diseases presenting
"similar clinical presentations"
symptom
alexander disease
familial hypocalciuric hypercalcemia
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