Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The kidney in Fabry's disease.
[fabry disease]
Fabry
disease
(
FD
)
is
an
X-
linked
disease
in
which
mutations
of
the
GLA
gene
result
in
a
deficiency
of
the
enzyme
α-galactosidase
A
and
subsequent
progressive
,
intralysosomal
deposition
of
undegraded
glycosphingolipid
products
,
primarily
globotriaosylceramide
,
in
multiple
organs
.
Progressive
nephropathy
is
one
of
the
main
features
of
FD
and
is
marked
by
an
insidious
development
,
with
an
overall
rate
of
progression
of
chronic
kidney
disease
(
CKD
)
very
similar
to
diabetic
nephropathy
.
Untreated
patients
usually
develop
end
stage
renal
disease
in
their
50
s
.
The
decline
in
renal
function
in
FD
is
adversely
affected
by
male
gender
,
advanced
CKD
,
hypertension
and
,
in
particular
,
severe
proteinuria
.
Enzyme
replacement
therapy
(
ERT
)
has
been
shown
to
slow
the
progression
of
Fabry
nephropathy
.
The
current
consensus
is
that
ERT
should
be
started
in
all
men
and
women
with
signs
of
renal
involvement
.
Diseases
Validation
Diseases presenting
"chronic kidney disease"
symptom
cystinuria
erdheim-chester disease
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
homocystinuria without methylmalonic aciduria
primary hyperoxaluria type 1
scrub typhus
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
This symptom has already been validated
