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Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.
[fabry disease]
Fabry
disease
(
FD
)
is
an
X-
linked
lysosomal
storage
disease
caused
by
α-galactosidase
A
deficiency
;
in
contrast
to
other
X-
linked
diseases
,
heterozygous
females
can
be
as
affected
as
men
.
The
construction
and
analysis
of
a
family
pedigree
is
a
powerful
tool
to
aid
clinicians
in
diagnosis
,
establishment
of
inheritance
pattern
,
and
early
detection
of
potentially
affected
relatives
.
The
present
study
highlights
the
importance
of
pedigree
analysis
in
families
with
FD
for
identifying
other
possibly
affected
relatives
and
investigating
the
clinical
manifestations
.
This
clinical
report
included
12
Mexican
index
cases
with
confirmed
FD
diagnosis
.
We
constructed
and
analyzed
their
pedigree
,
and
diagnosed
FD
in
24
affected
relatives
.
Clinical
features
were
similar
to
those
reported
for
other
populations
.
Pedigree
analysis
further
identified
an
additional
30
women
as
possible
carriers
.
We
conclude
that
pedigree
construction
and
analysis
is
a
useful
tool
to
help
physicians
detect
and
diagnose
relatives
at
risk
for
FD
,
particularly
heterozygous
females
,
so
that
they
can
receive
genetic
counseling
and
early
treatment
.
Mexican
families
with
FD
were
similar
to
other
populations
reported
in
the
literature
,
and
our
findings
confirmed
that
heterozygous
females
can
have
signs
and
symptoms
ranging
from
subtle
manifestations
to
the
classical
severe
presentation
described
in
males
.
Diseases
Validation
Diseases presenting
"early detection"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
congenital diaphragmatic hernia
cowden syndrome
cystinuria
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal squamous cell carcinoma
fabry disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
kallmann syndrome
krabbe disease
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pyomyositis
von hippel-lindau disease
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