Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Fabry disease: multidisciplinary evaluation after 10 years of treatment with agalsidase Beta.
[fabry disease]
Fabry
disease
is
an
X
linked
disorder
of
metabolism
due
to
deficient
α-galactosidase
A
activity
.
Enzyme
replacement
therapy
(
ERT
)
with
agalsidase
Beta
was
approved
by
EMA
in
2001
and
FDA
in
2003
.
Six
patients
were
enrolled
.
Baseline
data
was
measured
for
renal
,
cardiac
,
and
cerebrovascular
functioning
.
We
compared
baseline
quality
of
life
scales
with
the
current
results
.
These
parameters
were
assessed
during
the
10
Â
years
of
follow-up
period
.
Before
ERT
four
patients
showed
normal
eGFR
,
one
stage
2
of
CKD
,
and
one
hyperfiltration
stage
.
All
presented
microalbuminuria
and
just
two
cases
showed
proteinuria
.
After
10
Â
years
of
ERT
,
no
patient
showed
decrease
in
renal
functioning
.
One
patient
decreased
from
proteinuria
to
microalbuminuria
range
.
Before
treatment
one
case
showed
left
ventricular
(
LV
)
hypertrophy
and
LV
Mass
Index
was
abnormal
in
two
female
patients
.
After
10
Â
years
echocardiographic
values
did
not
present
progression
to
LVH
and
one
female
showed
regression
to
normal
values
of
LV
posterior
wall
and
interventricular
septum
.
Brain
MRI
showed
ischemic
lesions
in
one
female
and
vertebrobasilar
dolichoectasia
in
one
male
.
From
baseline
and
during
the
follow-up
period
MRI
did
not
progress
to
new
ischemic
lesions
and
there
were
no
clinical
signs
of
cerebrovascular
damage
.
After
10
Â
years
quality
of
life
showed
improvement
in
all
domains
measured
.
Early
treatment
of
agalsidase
Beta
is
related
to
a
better
outcome
regarding
stability
and
regression
of
signs
and
symptoms
in
Fabry
disease
.
Our
results
in
patients
with
mild
organ
involvement
showed
good
outcomes
and
support
an
early
and
continuous
ERT
.
