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A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes.
[fabry disease]
We
report
the
case
of
a
42
-
yearold
woman
diagnosed
with
heterozygous
Fabry
disease
(
FD
)
due
to
a
novel
alpha-galactosidase
A
Pro
210
S
er
mutation
and
exhibiting
a
unique
distribution
of
synaptopodin
within
podocytes
.
The
patient
was
referred
to
our
hospital
with
moderate
proteinuria
,
and
a
renal
biopsy
was
performed
.
Light
microscopic
examination
of
the
specimen
revealed
diffuse
global
enlargement
of
podocytes
,
which
also
showed
foamy
changes
.
Electron
microscopy
revealed
abundant
myeloid
bodies
in
podocytes
and
focal
mitochondrial
abnormalities
within
the
tubules
.
The
patient
exhibited
none
of
the
characteristic
symptoms
of
FD
except
hypohidrosis
and
had
no
obvious
family
history
.
Genetic
analysis
revealed
a
novel
missense
mutation
(
Pro
210
S
er
)
in
the
Î
±
-
galactosidase
A
gene
.
She
was
ultimately
diagnosed
with
FD
based
on
immunohistochemical
staining
indicating
large
amounts
of
accumulated
globotriaosylceramide
in
her
podocytes
,
detection
of
urinary
globotriaosylceramide
secretion
using
high
-performance
thin
-layer
chromatography
/
immunostaining
,
and
structural
modeling
of
the
mutated
alpha-galactosidase
A
(
Pro
210
S
er
)
.
Immunostaining
of
the
swollen
and
foamy
podocytes
using
podocyte-associated
antibodies
(
against
podocalyxin
,
Wilms
tumor
-
1
,
vimentin
,
and
synaptopodin
)
revealed
a
unique
distribution
of
synaptopodin
surrounding
globotriaosylceramide
.
To
our
knowledge
,
this
is
the
first
report
of
immunohistologically
detected
synaptopodin
upregulation
in
foamy
podocytes
in
a
patient
with
FD
.
