Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Adrenal Diagnostics: An Endocrinologist's Perspective focused on Hyperaldosteronism.
[adrenal incidentaloma]
The
era
of
sophisticated
high
resolution
imaging
with
the
consequent
identification
of
previously
unrecognised
adrenal
masses
(
adrenal
incidentalomas
)
,
has
emphasised
the
need
for
an
appropriate
biochemical
approach
to
define
adrenal
function
.
The
focus
of
this
testing
is
on
catecholamines
from
the
adrenal
medulla
(
testing
that
has
been
rendered
relatively
straightforward
by
plasma
metanephrine
measurements
)
and
the
physiological
corticosteroids
,
cortisol
and
aldosterone
,
synthesised
by
the
adrenal
cortex
.
The
diagnosis
of
hypercortisolism
remains
a
challenge
and
has
been
extensively
reviewed
.
In
the
context
of
hypertension
and
an
adrenal
incidentaloma
,
the
exclusion
of
hyperaldosteronism
has
an
importance
beyond
simple
blood
pressure
control
.
This
review
focuses
on
the
recommended
approaches
to
both
the
diagnosis
of
hyperaldosteronism
and
the
characterisation
of
its
aetiology
.
Monogenetic
causes
of
mineralocorticoid
hypertension
are
discussed
as
are
recent
developments
with
respect
to
both
the
molecular
aetiology
and
the
differential
diagnosis
of
aldosterone-producing
adenomas
.
Diseases
Validation
Diseases presenting
"hypertension"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
cadasil
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kallmann syndrome
kindler syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
pendred syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
sneddon syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated