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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
"hypertension"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
cadasil
child syndrome
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cushing syndrome
cystinuria
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
heparin-induced thrombocytopenia
hereditary cerebral hemorrhage with amyloidosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kallmann syndrome
kindler syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
pendred syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
sneddon syndrome
typhoid
von hippel-lindau disease
well-differentiated liposarcoma
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated