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Amiloride as an Alternate Adjuvant Antiproteinuric Agent in Fabry Disease: The Potential Roles of Plasmin and uPAR.
[fabry disease]
Patients
with
Fabry
disease
present
a
higher
risk
of
cardiovascular
and
kidney
morbidity
.
We
present
a
patient
with
a
past
history
of
biopsy-proven
Fabry
disease
and
stage
3
chronic
kidney
disease
.
Proteinuria
partially
dropped
from
6
.
8
 
g
/
day
to
2
.
1
 
g
/
day
despite
an
aggressive
regime
which
consisted
of
low
-
salt
diet
,
agalsidase
beta
infusions
,
dual
blockade
of
the
renin
-angiotensin
system
,
and
low
-dose
maintenance
of
steroids
.
As
proteinuria
is
considered
a
risk
marker
of
cardiovascular
disease
and
of
progression
of
kidney
disease
,
we
added
amiloride
5
 
mg
/
day
,
a
drug
with
proven
effects
in
podocyte
stabilization
and
proteinuria
actions
at
the
distal
convoluted
tubule
.
Proteinuria
finally
decreased
to
0
.
8
 
g
/
day
.
This
report
highlights
the
relevance
of
intervening
on
proteinuria
in
a
multitarget
approach
in
order
to
reduce
it
as
much
as
possible
.
Due
to
this
pharmacological
response
,
we
suggest
that
although
agalsidase
beta
specific
treatment
protects
the
endothelium
,
the
podocyte
,
and
the
tubule
in
Fabry
disease
and
secondary
haemodynamic
and
immunologic
pathways
are
treated
with
inhibition
of
the
renin
-angiotensin
system
and
steroids
,
amiloride
may
act
as
a
complementary
tool
in
podocyte
stabilization
and
in
proteinuria
effects
at
the
distal
tubule
.
Diseases
Validation
Diseases presenting
"specific treatment"
symptom
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cystinuria
esophageal adenocarcinoma
fabry disease
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
megacystis-microcolon-intestinal hypoperistalsis syndrome
severe combined immunodeficiency
werner syndrome
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