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Control of renal calcium, phosphate, electrolyte, and water excretion by the calcium-sensing receptor.
[familial hypocalciuric hypercalcemia]
Through
regulation
of
excretion
,
the
kidney
shares
responsibility
for
the
metabolic
balance
of
calcium
(
Ca
(
2
+
)
)
with
several
other
tissues
including
the
GI
tract
and
bone
.
The
balances
of
Ca
(
2
+
)
and
phosphate
(
PO
4
)
,
magnesium
(
Mg
(
2
+
)
)
,
sodium
(
Na
(
+
)
)
,
potassium
(
K
(
+
)
)
,
chloride
(
Cl
(
-
)
)
,
and
water
(
H
2
O
)
are
linked
via
regulatory
systems
with
overlapping
effects
and
are
also
controlled
by
systems
specific
to
each
of
them
.
Cloning
of
the
calcium-sensing
receptor
(
CaSR
)
along
with
the
recognition
that
mutations
in
the
CaSR
gene
are
responsible
for
two
familial
syndromes
characterized
by
abnormalities
in
the
regulation
of
PTH
secretion
and
Ca
(
2
+
)
metabolism
(
Familial
Hypocalciuric
Hypercalcemia
,
FHH
,
and
Autosomal
Dominant
Hypocalcemia
,
ADH
)
made
it
clear
that
extracellular
Ca
(
2
+
)
(
Ca
(
2
+
)
o
)
participates
in
its
own
regulation
via
a
specific
,
receptor-mediated
mechanism
.
Demonstration
that
the
CaSR
is
expressed
in
the
kidney
as
well
as
the
parathyroid
glands
combined
with
more
complete
characterizations
of
FHH
and
ADH
established
that
the
effects
of
elevated
Ca
(
2
+
)
on
the
kidney
(
wasting
of
Na
(
+
)
,
K
(
+
)
,
Cl
(
-
)
,
Ca
(
2
+
)
,
Mg
(
2
+
)
and
H
2
O
)
are
attributable
to
activation
of
the
CaSR
.
The
advent
of
positive
and
negative
allosteric
modulators
of
the
CaSR
along
with
mouse
models
with
global
or
tissue-selective
deletion
of
the
CaSR
in
the
kidney
have
allowed
a
better
understanding
of
the
functions
of
the
CaSR
in
various
nephron
segments
.
The
biology
of
the
CaSR
is
more
complicated
than
originally
thought
and
difficult
to
define
precisely
owing
to
the
limitations
of
reagents
such
as
anti-
CaSR
antibodies
and
the
difficulties
inherent
in
separating
direct
effects
of
Ca
(
2
+
)
on
the
kidney
mediated
by
the
CaSR
from
associated
CaSR-induced
changes
in
PTH
.
Nevertheless
,
renal
CaSRs
have
nephron-
specific
effects
that
contribute
to
regulating
Ca
(
2
+
)
in
the
circulation
and
urine
in
a
manner
that
assures
a
narrow
range
of
Ca
(
2
+
)
o
in
the
blood
and
avoids
excessively
high
concentrations
of
Ca
(
2
+
)
in
the
urine
.
Diseases
Validation
Diseases presenting
"parathyroid glands"
symptom
familial hypocalciuric hypercalcemia
omenn syndrome
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