Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Molecular pathogenesis of primary hyperparathyroidism.
[familial hypocalciuric hypercalcemia]
Primary
hyperparathyroidism
(
PHPT
)
is
a
common
endocrinopathy
,
mostly
caused
by
a
monoclonal
parathyroid
adenoma
.
The
hereditary
syndromes
include
multiple
endocrine
neoplasia
types
1
(
MEN
1
)
and
2
A
(
MEN
2
A
)
,
hereditary
hyperparathyroidism
-jaw
tumor
(
HPTJT
)
,
familial
isolated
hyperparathyroidism
(
FIHP
)
,
familial
hypocalciuric
hypercalcemia
(
FHH
)
and
neonatal
severe
hyperparathyroidism
(
NSHPT
)
.
Mutations
of
MEN
1
and
CDKN
1
B
genes
are
responsible
for
MEN
1
in
70
-
80
%
and
about
2
%
of
cases
,
respectively
.
MEN
1
and
CDKN
1
B
genes
have
also
a
role
in
the
pathogenesis
of
sporadic
parathyroid
adenomas
.
HRPT
2
/
CDC
73
gene
mutations
are
responsible
for
HPT-JT
and
sporadic
parathyroid
carcinoma
.
MEN
1
and
HRPT
2
/
CDC
73
genes
mutations
have
also
been
found
in
a
subset
of
FIHP
families
.
FHH
and
NSHPT
represent
the
mildest
and
severest
variants
of
PHPT
,
caused
by
heterozygous
and
homozygous
mutations
in
the
calcium
sensing
receptor
(
CASR
)
gene
,
respectively
.
