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Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis.
[fabry disease]
Screening
for
Fabry
disease
(
FD
)
,
an
X-
linked
lysosomal
storage
disorder
,
reveals
a
significant
number
of
individuals
with
a
genetic
variant
of
unknown
significance
without
classical
FD
manifestations
;
these
variants
in
the
α-galactosidase
A
gene
often
result
in
a
high
residual
leukocyte
α-galactosidase
A
and
it
is
unclear
whether
these
individuals
suffer
from
FD
.
Therefore
,
a
structured
diagnostic
approach
is
warranted
.
We
present
a
diagnostic
algorithm
on
how
to
approach
adults
with
chronic
kidney
disease
and
an
uncertain
diagnosis
of
FD
nephropathy
.
A
modified
Delphi
procedure
was
conducted
to
reach
consensus
among
11
FD
experts
.
A
systematic
review
was
performed
to
identify
possible
criteria
that
could
confirm
or
exclude
FD
nephropathy
.
The
gold
standard
for
FD
nephropathy
was
defined
as
characteristic
storage
on
electron
microscopy
(
EM
)
in
a
kidney
biopsy
in
the
absence
of
medication
that
may
induce
similar
storage
.
The
suggested
criteria
to
confirm
FD
nephropathy
are
as
follows
:
'
renal
cysts
'
,
'
Maltese
cross
sign
'
,
'
immunohistochemical
staining
of
Gb
3
in
urine
'
and
'
high
urinary
Gb
3
'
;
and
to
exclude
FD
nephropathy
:
'
absence
of
renal
cysts
'
,
'
small
kidneys
'
and
'
high
protein
excretion
'
were
rejected
because
of
low
or
uncertain
specificity
.
Urinary
Gb
3
may
be
increased
in
other
kidney
diseases
and
there
was
no
agreement
on
this
criterion
,
although
a
third
of
the
panel
indicated
that
it
is
sufficient
to
diagnose
FD
nephropathy
.
The
'
Maltese
cross
sign
'
and
'
high
urinary
Gb
3
'
were
selected
as
red
flags
to
suggest
the
possibility
of
FD
nephropathy
,
but
are
not
sufficient
for
a
definite
diagnosis
of
FD
nephropathy
.
In
adults
with
chronic
kidney
disease
,
an
α-galactosidase
A
gene
variant
and
an
uncertain
diagnosis
of
FD
,
a
kidney
biopsy
with
EM
analysis
should
be
performed
to
confirm
or
reject
the
diagnosis
of
FD
nephropathy
.
Other
criteria
currently
can
not
substitute
for
a
biopsy
in
these
cases
.
Diseases
Validation
Diseases presenting
"it is unclear whether these individuals suffer from fd"
symptom
fabry disease
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