Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
[familial hypocalciuric hypercalcemia]
The
autosomal
dominantly
inherited
condition
familial
hypocalciuric
hypercalcemia
(
FHH
)
is
characterized
by
elevated
plasma
calcium
levels
,
relative
or
absolute
hypocalciuria
,
and
normal
to
moderately
elevated
plasma
PTH
.
The
condition
is
difficult
to
distinguish
clinically
from
primary
hyperparathyroidism
and
is
caused
by
inactivating
mutations
in
the
calcium
sensing
receptor
(
CASR
)
gene
.
We
sought
to
define
the
mutation
spectrum
of
the
CASR
gene
in
a
Danish
FHH
population
and
to
establish
genotype-phenotype
relationships
regarding
the
different
mutations
.
A
total
of
213
subjects
clinically
suspected
to
have
FHH
,
and
121
subjects
enrolled
as
part
of
a
family-screening
program
were
studied
.
Genotype-phenotype
relationships
were
established
in
66
mutation
-
positive
index
patients
and
family
members
.
We
determined
CASR
gene
mutations
,
and
correlating
levels
of
plasma
calcium
(
albumin
corrected
)
,
ionized
calcium
(
pH
7
.
4
)
,
and
PTH
were
measured
.
We
identified
22
different
mutations
in
39
FHH
families
.
We
evaluated
data
on
circulating
calcium
and
PTH
for
11
different
mutations
,
representing
a
spectrum
of
clinical
phenotypes
,
ranging
from
calcium
concentrations
moderately
above
the
upper
reference
limit
,
to
calcium
levels
more
than
20
%
above
the
upper
reference
limit
.
Furthermore
,
the
mean
plasma
PTH
concentration
was
within
the
normal
range
in
eight
of
11
studied
mutations
,
but
mild
to
moderately
elevated
in
families
with
the
mutations
p
.
C
5
82
Y
,
p
.
C
5
82
F
,
and
p
.
G
553
R
.
The
present
data
add
19
novel
mutations
to
the
catalog
of
inactivating
CASR
mutations
and
illustrate
a
variety
of
biochemical
phenotypes
in
patients
with
the
molecular
genetic
diagnosis
FHH
.
Diseases
Validation
Diseases presenting
"is caused by inactivating mutations in the calcium sensing receptor"
symptom
familial hypocalciuric hypercalcemia
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom