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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
"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