Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
[Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT].
[familial hypocalciuric hypercalcemia]
The
challenge
in
diagnosing
primary
hyperparathyroidism
(
HPT
)
is
to
detect
hereditary
cases
before
first
surgery
.
About
5
%
of
cases
are
hereditary
and
integral
component
of
multiple
endocrine
neoplasia
type
1
and
2
(
MEN
1
/
MEN
2
)
,
hyperparathyroidism-jaw
tumor
syndrome
(
HPT-JT
)
,
familial
hypocalciuric
hypercalcemia
(
FHH
)
,
and
familial
isolated
hyperparathyroidism
(
FIHPT
)
.
Aim
of
this
study
was
to
evaluate
similarities
and
differences
in
hereditary
varieties
of
HPT
.
80
patients
with
hereditary
HPT
were
evaluated
in
a
retrospective
analysis
between
1980
and
2010
concerning
clinical
findings
,
family
history
,
therapy
,
biochemical
and
molecular-genetic
findings
and
follow-up
.
80
patients
with
hereditary
HPT
are
described
,
52
belonged
to
MEN
1
,
15
to
MEN
2
,
7
to
HPT-JT
,
4
to
FHH
and
2
to
FIHPT
kindreds
.
Penetrance
of
HPT
was
highest
in
MEN
1
(
85
%
)
,
followed
by
HPT-JT
(
64
%
)
,
FHH
(
28
.
5
%
)
,
and
MEN
2
(
8
%
)
.
Youngest
age
at
diagnosis
of
HPT
was
7
and
16
years
in
the
MEN
2
/
HPT-JT
group
.
Serum
Calcium
was
highest
in
the
HPT-JT
group
(
3
.
6
mM
)
,
recurrencies
of
HPT
were
highest
in
the
MEN
1
group
(
40
.
5
%
)
.
Parathyroid
cancer
solely
occurred
in
the
HPT-JT
group
.
In
single
cases
HPT
occurs
in
FHH
.
Among
the
different
varieties
of
hereditary
HPT
MEN
1
-
HPT
is
most
frequent
and
carries
the
utmost
recurrence
rate
.
Early
diagnosis
of
HPT-JT
syndrome
is
important
because
of
the
occurrence
of
parathyroid
cancer
.
Single
cases
of
HPT
in
FHH
are
described
.
Preoperative
diagnosis
of
hereditary
HPT
has
therapeutic
consequences
concerning
extent
of
surgery
and
implications
concerning
patient
and
family
care
.
Diseases
Validation
Diseases presenting
"cancer"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
alpha-thalassemia
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
hirschsprung disease
hodgkin lymphoma, classical
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
