Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor].
[familial hypocalciuric hypercalcemia]
The
aim
of
this
paper
is
to
refer
the
unusual
case
of
a
34
years
old
woman
who
consulted
because
of
asymptomatic
hypercalcemia
,
detected
in
a
biochemical
routine
examination
.
The
elevated
values
of
serum
calcium
without
blunted
parathyroid
hormone
secretion
suggested
a
parathyroid
pathology
.
The
concomitance
of
hypocalciuria
with
hypercalcemia
and
a
calcium
clearance
/
creatinine
clearance
ratio
less
than
0
.
01
reverted
the
diagnosis
of
familial
hypocalciuric
hypercalcemia
,
the
first
option
.
The
absence
of
familial
background
led
to
the
molecular
study
of
the
patient
and
her
family
.
The
latter
confirmed
the
diagnosis
of
a
de
novo
inactivating
mutation
of
the
calcium
sensing
receptor
.
Details
on
the
molecular
study
and
a
brief
review
of
this
subject
are
included
.
