Rare Diseases Symptoms Automatic Extraction
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Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry.
[fabry disease]
In
recent
years
,
increased
efforts
have
been
undertaken
to
address
the
needs
of
patients
with
rare
diseases
by
international
initiatives
and
consortia
devoted
to
rare
disease
research
and
management
.
However
,
information
on
the
overall
prevalence
of
rare
diseases
within
the
end-
stage
renal
disease
(
ESRD
)
population
is
limited
.
The
aims
of
this
study
were
(
i
)
to
identify
those
rare
diseases
within
the
ERA
-EDTA
Registry
for
which
renal
replacement
therapy
(
RRT
)
is
being
provided
and
(
ii
)
to
determine
the
prevalence
and
incidence
of
RRT
for
ESRD
due
to
rare
diseases
,
both
overall
and
separately
for
children
and
adults
.
The
Orphanet
classification
of
rare
disease
was
searched
for
rare
diseases
potentially
causing
ESRD
,
and
these
diagnosis
codes
were
mapped
to
the
corresponding
ERA
-EDTA
primary
renal
disease
codes
.
Thirty
-
one
diagnoses
were
defined
as
rare
diseases
causing
ESRD
.
From
1
January
2007
to
31
December
2011
,
7194
patients
started
RRT
for
a
rare
disease
(
10
.
6
%
children
)
.
While
some
diseases
were
exclusively
found
in
adults
(
e
.
g
.
Fabry
disease
)
,
primary
oxalosis
,
cystinosis
,
congenital
anomalies
of
the
kidney
and
urinary
tract
(
CAKUT
)
and
medullary
cystic
kidney
disease
affected
young
patients
in
up
to
46
%
.
On
31
December
2011
,
20
595
patients
(
12
.
4
%
of
the
total
RRT
population
)
were
on
RRT
for
ESRD
caused
by
a
rare
disease
.
The
point
prevalence
was
32
.
5
per
million
age-related
population
in
children
and
152
.
0
in
adults
.
Only
5
.
8
%
of
these
patients
were
younger
than
20
years
;
however
,
57
.
7
%
of
all
children
on
RRT
had
a
rare
disease
,
compared
with
only
11
.
9
%
in
adults
.
CAKUT
and
focal
segmental
glomerulosclerosis
were
the
most
prevalent
rare
disease
entities
among
patients
on
RRT
.
More
than
half
of
all
children
and
one
of
nine
adults
on
RRT
in
the
ERA
-EDTA
Registry
suffer
from
kidney
failure
due
to
a
rare
disease
,
potentially
with
a
large
number
of
additional
undiagnosed
or
miscoded
cases
.
Comprehensive
diagnostic
assessment
and
the
application
of
accurate
disease
classification
systems
are
essential
for
improving
the
identification
and
management
of
patients
with
rare
kidney
diseases
.
Diseases
Validation
Diseases presenting
"urinary tract"
symptom
carcinoma of the gallbladder
cystinuria
erythropoietic protoporphyria
fabry disease
hirschsprung disease
holt-oram syndrome
megacystis-microcolon-intestinal hypoperistalsis syndrome
primary hyperoxaluria type 1
proteus syndrome
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