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A New Workflow for Proteomic Analysis of Urinary Exosomes and Assessment in Cystinuria Patients.
[cystinuria]
Cystinuria
is
a
purely
renal
,
rare
genetic
disease
caused
by
mutations
in
cystine
transporter
genes
and
characterized
by
defective
cystine
reabsorption
leading
to
kidney
stones
.
In
14
%
of
cases
,
patients
undergo
nephrectomy
,
but
given
the
difficulty
to
predict
the
evolution
of
the
disease
,
the
identification
of
markers
of
kidney
damage
would
improve
the
follow-up
of
patients
with
a
higher
risk
.
The
aim
of
the
present
study
is
to
develop
a
robust
,
reproducible
,
and
noninvasive
methodology
for
proteomic
analysis
of
urinary
exosomes
using
high
resolution
mass
spectrometry
.
A
clinical
pilot
study
conducted
on
eight
cystinuria
patients
versus
10
controls
highlighted
165
proteins
,
of
which
38
were
up-regulated
,
that
separate
cystinuria
patients
from
controls
and
further
discriminate
between
severe
and
moderate
forms
of
the
disease
.
These
proteins
include
markers
of
kidney
injury
,
circulating
proteins
,
and
a
neutrophil
signature
.
Analysis
of
selected
proteins
by
immunobloting
,
performed
on
six
additional
cystinuria
patients
,
validated
the
mass
spectrometry
data
.
To
our
knowledge
,
this
is
the
first
successful
proteomic
study
in
cystinuria
unmasking
the
potential
role
of
inflammation
in
this
disease
.
The
workflow
we
have
developed
is
applicable
to
investigate
urinary
exosomes
in
different
renal
diseases
and
to
search
for
diagnostic
/
prognostic
markers
.
Data
are
available
via
ProteomeXchange
with
identifier
PXD
001430
.
Diseases
Validation
Diseases presenting
"rare genetic disease"
symptom
achondroplasia
coats disease
cystinuria
epidermolysis bullosa simplex
fabry disease
kabuki syndrome
lymphangioleiomyomatosis
pendred syndrome
proteus syndrome
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