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Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.
[fabry disease]
Fabry
disease
is
an
X-
linked
multisystemic
lysosomal-storage
condition
.
We
describe
a
large
family
with
a
novel
GLA
mutation
:
p
.
M
187
R
/
g
7219
T
>
G
.
A
namnesis
/
physical-exam
,
blood
/
urine
analysis
,
α-
Gal-
A
activity
and
/
or
genetic
study
of
at
-risk
individuals
and
multidisciplinary
evaluation
in
confirmed
cases
.
4
males
and
13
heterozygous-females
displayed
the
mutation
.
Cardiac
/
renal
/
neurological
disease
was
diagnosed
at
a
mean
age
of
41
/
29
/
39
years
in
males
and
51
/
56
/
46
years
in
females
.
Onset
mean
age
was
20
years
versus
42
years
.
9
/
15
had
cardiomyopathy
.
Delta
wave
suggestive
of
accessory
pathway
was
identified
in
1
male
and
2
females
.
1
female
had
cardiac
arrest
(
ventricular
fibrillation
,
61
years
)
.
2
females
and
1
male
died
suddenly
(
63
,
64
and
57
years
)
.
Cardiac
-subscore
of
Mainz
Severity-
Score-
Index
was
severe
for
males
and
females
over
40
years
.
4
/
15
(
26
%
)
developed
early
renal
disease
.
2
males
needed
dialysis
.
1
male
died
at
69
years
in
spite
of
kidney-
heart
transplant
.
We
describe
the
largest
genetically
confirmed
Spanish
family
using
multidisciplinary
evaluation
and
MSSI
calculation
.
The
novel
mutation
p
.
M
187
R
/
g
7219
T
>
G
is
associated
with
a
particularly
malignant
cardiac
phenotype
in
males
and
females
over
40
years
.
Severity
was
higher
than
that
of
the
largest
Spanish
FOS
-cohort
.
Short
-
PR
with
delta
is
being
reported
for
the
first
time
.
Diseases
Validation
Diseases presenting
"accessory pathway"
symptom
fabry disease
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