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Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?
[fabry disease]
Fabry
disease
is
a
rare
,
X-
linked
,
lysosomal
storage
disease
caused
by
mutations
in
the
gene
encoding
the
enzyme
alpha-galactosidase
A
.
Complete
or
partial
deficiency
in
this
enzyme
leads
to
intracellular
accumulation
of
globotriaosylceramide
(
Gb
3
)
and
related
glycosphingolipids
in
many
cell
types
throughout
the
body
,
including
the
kidney
.
Progressive
accumulation
of
Gb
3
in
podocytes
,
epithelial
cells
and
the
tubular
cells
of
the
distal
tubule
and
loop
of
Henle
contribute
to
the
renal
symptoms
of
Fabry
disease
,
which
manifest
as
proteinuria
and
reduced
glomerular
filtration
rate
leading
to
chronic
kidney
disease
and
progression
to
end-
stage
renal
disease
.
Early
diagnosis
and
timely
initiation
of
treatment
of
Fabry
renal
disease
is
an
important
facet
of
disease
management
.
Initiating
treatment
with
enzyme
replacement
therapy
(
ERT
;
agalsidase
alfa
,
Replagal
®
,
Shire
;
agalsidase
beta
,
Fabrazyme
®
,
Genzyme
)
as
part
of
a
comprehensive
strategy
to
prevent
complications
of
the
disease
,
may
be
beneficial
in
stabilizing
renal
function
or
slowing
its
decline
.
Early
initiation
of
ERT
may
also
be
more
effective
than
initiating
therapy
in
patients
with
more
advanced
disease
.
Several
strategies
are
required
to
complement
the
use
of
ERT
and
treat
the
myriad
of
associated
symptoms
and
organ
involvements
.
In
particular
,
patients
with
renal
Fabry
disease
are
at
risk
of
cardiovascular
events
,
such
as
high
blood
pressure
,
cardiac
arrhythmias
and
stroke
.
This
review
discusses
the
management
of
renal
involvement
in
Fabry
disease
,
including
diagnosis
,
treatments
,
and
follow-up
,
and
explores
recent
advances
in
the
use
of
biomarkers
to
assist
with
diagnosis
,
monitoring
disease
progression
and
response
to
treatment
.
Diseases
Validation
Diseases presenting
"renal involvement"
symptom
erdheim-chester disease
fabry disease
familial mediterranean fever
primary hyperoxaluria type 1
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
waldenström macroglobulinemia
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