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[Usefulness of genetic tests in familial hypocalciuric hypercalcemia with atypical clinical presentation].
[familial hypocalciuric hypercalcemia]
Biochemical
tests
related
to
calcium
and
phosphorus
metabolism
have
traditionally
been
considered
as
a
reliable
tool
to
differentiate
familial
hypocalciuric
hypercalcemia
(
FHH
)
from
primary
hyperparathyroidism
(
PHPT
)
.
However
,
diagnosis
may
sometimes
be
difficult
even
for
experienced
clinicians
.
Our
objective
was
to
assess
the
accuracy
of
diagnostic
tests
in
FHH
and
the
circumstances
in
which
genetic
studies
are
required
.
A
descriptive
study
was
conducted
of
two
families
with
hypercalcemia
and
suspected
atypical
FHH
.
Urinary
calcium
excretion
was
measured
in
24
-
hour
urine
using
different
tests
(
calcium
excretion
(
CE
)
,
urinary
calcium
/
creatinine
clearance
ratio
(
UCCR
)
)
,
and
serum
PTH
and
25
-
hydroxyvitamin
D
levels
were
tested
.
Index
cases
underwent
genetic
study
.
One
patient
from
the
first
family
showed
overt
,
persistent
hypercalciuria
with
values
more
consistent
with
PHPT
than
with
FHH
if
we
consider
,
as
proposed
by
guidelines
,
a
UCCR
lower
than
0
.
01
as
diagnostic
of
FHH
and
a
value
higher
than
0
.
02
as
diagnostic
of
PHPT
.
The
index
case
of
the
second
family
underwent
surgery
for
a
parathyroid
adenoma
.
Both
cases
had
a
mutation
c
.
164
C
>
T
(
Pro
55
Leu
)
in
exon
2
in
heterozygosis
.
According
to
current
clinical
guidelines
,
definitive
diagnosis
of
FHH
requires
genetic
confirmation
,
which
allowed
in
our
case
for
detection
of
two
families
with
FHH
and
atypical
clinical
presentations
.
We
think
that
rational
use
of
genetic
tests
may
avoid
unnecessary
surgery
and
excess
monitoring
costs
.
Diseases
Validation
Diseases presenting
"calcium excretion"
symptom
adrenal incidentaloma
aromatase deficiency
familial hypocalciuric hypercalcemia
kabuki syndrome
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