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Fabry disease in infancy and early childhood: a systematic literature review.
[fabry disease]
Purpose
:
Fabry
disease
is
a
pan-ethnic
,
progressive
,
X-
linked
genetic
disorder
that
commonly
presents
in
childhood
and
is
caused
by
deficient
activity
of
the
lysosomal
enzyme
alpha-galactosidase
A
(
α-gal
A
)
.
Symptoms
of
Fabry
disease
in
the
pediatric
population
are
well
described
for
patients
over
five
years
of
age
;
however
,
data
are
limited
for
infancy
and
early
childhood
.
The
purpose
of
this
article
is
to
delineate
the
age
of
detection
for
specific
Fabry
symptoms
in
early
childhood
.
Methods
:
A
systematic
retrospective
analysis
of
PubMed
indexed
,
peer
-reviewed
publications
and
case
reports
in
the
pediatric
Fabry
population
was
performed
to
review
symptoms
in
patients
reported
before
5
years
of
age
.
Results
:
The
most
frequently
reported
symptom
in
all
age
groups
under
5
years
was
acroparesthesias
/
neuropathic
pain
,
reported
in
9
children
,
ranging
in
age
from
2
.
0
-
4
.
0
years
.
Also
notable
is
the
frequency
of
gastrointestinal
issues
reported
in
6
children
aged
1
.
0
-
4
.
1
years
of
age
.
Conclusion
:
This
article
finds
clear
evidence
that
symptoms
can
occur
in
early
childhood
,
before
age
5
years
.
Given
early
presenting
symptoms
and
the
ability
to
monitor
these
disease
hallmarks
,
a
timely
referral
to
a
medical
geneticist
or
other
specialty
clinician
experienced
in
managing
children
with
Fabry
disease
is
strongly
indicated
.
Genet
Med
advance
online
publication
18
September
2014
Genetics
in
Medicine
(
2014
)
;
doi
:
10
.
1038
/
gim
.
2014
.
120
.