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Coexistence of Fabry disease and IgA nephropathy: a report of two cases.
[fabry disease]
Coexistence
of
Fabry
disease
and
IgA
nephropathy
is
rare
.
Moreover
,
the
coexisting
Fabry
disease
may
be
unrecognized
due
to
unapparent
clinical
manifestations
.
We
described
two
cases
with
coexisting
Fabry
disease
and
IgA
nephropathy
.
The
clinicopathological
features
of
these
two
patients
were
studied
.
A
54
-
year
-old
male
presented
with
proteinuria
,
hematuria
,
and
hypertension
,
and
a
33
-
year
-old
male
presented
with
proteinuria
without
clinical
signs
or
family
history
of
Fabry
disease
.
Both
of
them
were
diagnosed
with
IgA
nephropathy
at
admission
,
whereas
Fabry
disease
was
not
suspected
.
Subsequent
immunofluorescent
study
confirmed
the
diagnosis
of
IgA
nephropathy
by
showing
positive
staining
for
IgA
and
complement
C
3
in
the
mesangium
.
Meanwhile
,
light
microscopy
showed
remarkable
vacuolation
of
podocytes
with
mild
mesangial
expansion
,
which
was
characteristic
of
Fabry
nephropathy
.
Further
examination
of
toluidine
blue
-stained
semi-
thin
sections
and
electron
microscopy
demonstrated
blue
bodies
and
myelin
figures
in
the
cytoplasm
of
podocytes
,
respectively
.
The
diagnosis
of
coexisting
Fabry
disease
was
finally
established
based
on
deficient
α-galactosidase
A
activity
in
both
patients
.
This
case
study
is
an
important
reminder
of
the
role
of
kidney
biopsy
as
an
indicator
of
Fabry
disease
and
its
rare
coexistence
with
IgA
nephropathy
.
Diseases
Validation
Diseases presenting
"electron microscopy demonstrated blue bodies and myelin figures in the cytoplasm of podocytes"
symptom
fabry disease
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