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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
.
Diseases
Validation
Diseases presenting
"early childhood"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
erythropoietic protoporphyria
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
papillon-lefèvre syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
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