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Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications.
[familial hypocalciuric hypercalcemia]
To
discuss
the
unusual
occurrence
of
both
familial
hypocalciuric
hypercalcemia
(
FHH
)
and
primary
hyperparathyroidism
in
the
same
patient
and
to
explore
potential
mechanisms
of
association
and
issues
related
to
clinical
management
.
We
discuss
the
diagnosis
,
compare
the
clinical
presentations
of
FHH
and
primary
hyperparathyroidism
,
review
the
literature
regarding
patients
who
have
presented
with
both
disorders
,
and
discuss
management
considerations
.
We
also
describe
2
patients
who
have
both
FHH
(
confirmed
by
genetic
testing
for
a
mutation
in
the
gene
encoding
the
calcium-sensing
receptor
[
CASR
]
)
and
primary
hyperparathyroidism
.
The
occurrence
of
both
FHH
and
primary
hyperparathyroidism
in
the
same
patient
has
been
reported
in
a
few
cases
,
including
2
patients
described
here
,
one
of
whom
was
documented
to
have
a
novel
CASR
mutation
.
In
those
with
clinical
sequelae
of
hyperparathyroidism
,
parathyroidectomy
has
led
to
reduction
,
but
not
normalization
,
of
serum
calcium
levels
.
The
coexistence
of
FHH
and
primary
hyperparathyroidism
should
be
considered
in
patients
with
hypercalcemia
,
hypophosphatemia
,
frankly
elevated
parathyroid
hormone
levels
,
and
low
urinary
calcium
excretion
.
Genetic
testing
for
inactivating
CASR
gene
mutations
can
confirm
the
diagnosis
of
FHH
.
Although
surgical
intervention
does
not
resolve
hypercalcemia
,
it
may
be
beneficial
by
reducing
the
degree
of
hypercalcemia
,
alleviating
the
symptoms
,
and
preventing
potential
complications
of
hyperparathyroidism
.
Diseases
Validation
Diseases presenting
"frankly elevated parathyroid hormone levels"
symptom
familial hypocalciuric hypercalcemia
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