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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
"dominantly inherited condition familial"
symptom
familial hypocalciuric hypercalcemia
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