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[Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature].
[fabry disease]
Anderson-
Fabry
disease
is
an
X-
linked
lysosomal
storage
disorder
resulting
from
the
deficiency
of
the
hydrolytic
enzyme
alpha
galactosidase
A
,
with
consequent
accumulation
of
globotrioasoyl
ceramide
in
cells
and
tissues
of
the
body
,
resulting
in
a
multi-system
pathology
including
end
organ
failure
.
In
the
classical
phenotype
,
cardiac
failure
,
renal
failure
and
stroke
result
and
a
reduced
median
life
expectancy
ensues
.
The
current
causal
treatment
for
Fabry
disease
is
enzyme
replacement
therapy
(
ERT
)
.
Two
different
products
,
Replagal
(
agalsidase
alfa
)
and
Fabrazyme
(
agalsidase
beta
)
,
have
been
commercially
available
in
Europe
for
almost
10
years
and
they
are
both
indicated
for
long
-term
treatment
.
In
fact
,
clinical
trials
,
observational
studies
and
registry
data
have
provided
abundant
evidence
for
the
safety
and
efficacy
of
ERT
in
improving
symptoms
of
pain
,
gastrointestinal
disorder
,
hypohidrosis
,
left
ventricular
mass
index
,
glomerular
filtration
rate
and
quality
of
life
.
Few
data
are
available
on
either
comparison
of
the
two
treatments
or
the
clinical
course
of
the
disease
.
This
article
reviews
the
published
evidence
for
the
clinical
efficacy
of
the
two
available
enzyme
preparations
.
Diseases
Validation
Diseases presenting
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated