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[Primary hyperparathyroidism].
[familial hypocalciuric hypercalcemia]
Primary
hyperparathyroidism
(
PHPT
)
is
characterized
by
excessive
PTH
secretion
in
respect
to
calcium
homeostasis
needs
,
due
to
parathyroid
adenoma
(
80
%
of
cases
)
,
hyperplasia
(
15
-
20
%
)
,
or
carcinoma
(
1
-
2
%
)
.
In
familial
forms
of
PHPT
,
several
mutations
have
an
established
role
:
menin
gene
for
MEN
type
1
,
RET
for
MEN
type
2
a
,
calcium-sensing
receptor
gene
for
familial
hypocalciuric
hypercalcemia
,
parafibromin
gene
for
PHPT-jaw
tumour
and
carcinoma
.
Etiology
of
sporadic
adenomas
(
80
%
of
PHPT
cases
)
is
less
defined
,
being
most
commonly
found
a
mutation
of
menin
gene
or
activation
of
PRAD
1
oncogene
.
In
recent
years
,
the
classical
features
of
the
disease
became
less
common
.
Typically
,
bone
involvement
is
now
represented
by
a
reduced
bone
mass
at
skeletal
sites
more
rich
in
cortical
tissue
.
Prominently
trabecular
skeletal
sites
are
relatively
spared
,
because
of
the
anabolic
effects
of
a
slight
PTH
excess
on
trabecular
tissue
.
PHPT
patients
may
have
increased
fracture
risk
,
though
it
is
not
clear
why
bone
damage
is
more
severe
in
a
subgroup
of
patients
.
Clinical
features
of
hypercalcemia
may
be
fatigue
,
anorexia
,
thirst
,
and
polyuria
.
Vague
neurological
and
psychiatric
symptoms
,
such
as
weakness
,
anxiety
,
depression
,
paresthesias
,
and
muscular
cramps
may
ameliorate
after
parathyroidectomy
.
Recent
reports
indicate
increased
cardiovascular
mortality
in
PHPT
patients
.
Diagnosis
is
based
on
the
detection
of
hypercalcemia
,
together
with
inappropriately
high
serum
PTH
levels
.
Preoperative
localization
of
the
diseased
glands
is
mandatory
in
persistent
or
recurrent
PHPT
,
as
like
as
when
minimally
invasive
surgery
is
planned
.
High
resolution
ultrasonography
and
SPECT
double
-phase
99
m
Tc-sestamibi
scintigraphy
are
the
most
commonly
employed
techniques
.
Intraoperatory
PTH
assay
may
confirm
successful
surgery
when
serum
concentrations
decrease
more
than
50
%
.
Surgical
therapy
is
indicated
in
patients
with
renal
or
skeletal
complications
,
such
as
in
those
with
previous
parathyrotoxic
crisis
.
Many
surgeons
in
recent
years
adopted
minimally
invasive
parathyroidectomy
.
Medical
treatment
is
an
option
for
patients
unwilling
or
unfitted
for
surgery
because
of
severe
concomitant
diseases
.
Employed
therapy
includes
estrogens
,
SERMs
,
bisphosphonates
and
calcimimetics
.
Diseases
Validation
Diseases presenting
"parafibromin gene for phpt-jaw tumour and carcinoma"
symptom
familial hypocalciuric hypercalcemia
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