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A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
[fabry disease]
Anderson
/
Fabry
disease
expresses
a
wide
range
of
clinical
variability
in
patients
that
it
is
possible
to
explain
referring
to
a
genetic
variability
with
numerous
mutations
described
in
the
literature
(
more
than
600
)
.
We
report
some
clinical
cases
of
some
members
of
a
Sicilian
family
to
express
phenotypical
variability
of
this
disease
in
subjects
with
the
same
genetic
mutation
RESULTS
:
The
first
case
was
a
59
-
year
-old
female
.
Brain
MRI
revealed
right
frontal
periventricular
white
matter
of
likely
vascular
-degenerative
origin
.
The
proband
's
alpha
galactosidase
A
activity
was
3
.
7
nmol
/
mL
/
h
.
Molecular
genetics
revealed
a
polymorphism
:
-
10
C
>
T
;
IVS
2
-
76
_
80
del
5
;
IVS
4
-
16
A
>
G
;
IVS
6
-
22
C
>
T
.
The
second
case
was
a
30
year
-old
male
affected
by
acroparesthesias
and
hypoidrosis
since
he
was
an
adolescent
.
Renal
impairment
was
first
detected
at
age
29
;
it
began
with
high
plasma
levels
of
creatinine
and
microalbuminuria
date
.
The
third
case
was
a
41
year
-old
daughter
that
presented
with
acroparesthesias
,
hypoidrosis
since
she
was
very
young
.
The
patient
's
alpha
galactosidase
A
activity
was
4
.
1
nmol
/
mL
/
h
,
in
whole
blood
,
which
is
compatible
with
heterozygote
subject
for
Fabry
's
disease
or
healthy
control
.
The
fourth
case
was
a
male
grandson
of
the
proband
,
9
year
-old
child
.
He
had
a
classic
gastrointestinal
involvement
.
He
complained
of
recurrent
abdominal
pain
,
post
prandial
bloating
and
pain
.
This
child
's
enzyme
activity
was
1
.
65
nmol
/
mL
/
h
.
In
cases
2
,
3
,
and
4
,
molecular
genetics
revealed
a
polymorphism
:
-
10
C
>
T
;
IVS
2
-
76
_
80
del
5
;
IVS
4
-
16
A
>
G
;
IVS
6
-
22
C
<
T
DISCUSSION
:
A
recent
study
reported
that
IVS
4
+
68
A
>
G
,
IVS
6
-
22
C
>
T
polymorphisms
occurred
in
8
.
9
%
and
3
.
7
%
of
the
subjects
respectively
,
and
the
significance
of
this
haplotype
in
FD
pathology
remains
unknown
but
possibly
suggestive
of
Anderson
/
Fabry
disease
.
Diseases
Validation
Diseases presenting
"high plasma levels"
symptom
fabry disease
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
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