Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Pathophysiology and treatment of cystinuria.
[cystinuria]
Cystinuria
is
a
primary
inherited
aminoaciduria
caused
by
mutations
in
the
genes
that
encode
the
two
subunits
(
neutral
and
basic
amino
acid
transport
protein
rBAT
and
b
(
0
,
+
)
-
type
amino
acid
transporter
1
)
of
the
amino
acid
transport
system
b
(
0
,
+
)
.
This
autosomal
recessive
disorder
(
in
which
few
cases
show
dominant
inheritance
)
causes
a
failure
in
the
reabsorption
of
filtered
cystine
and
dibasic
amino
acids
in
the
proximal
tubule
.
The
clinical
symptoms
of
this
disease
are
caused
by
the
loss
of
poorly
soluble
cystine
,
which
precipitates
to
form
stones
.
Although
rare
,
the
prevalence
of
cystinuria
is
sufficiently
high
that
the
disease
results
in
a
substantial
contribution
to
pediatric
renal
lithiasis
.
A
thorough
understanding
of
cystine
transport
processes
over
the
past
15
years
and
the
genetic
abnormalities
responsible
for
the
disease
has
led
to
a
new
classification
of
cystinuria
and
recognition
that
some
cases
result
from
an
autosomal
dominant
etiology
with
incomplete
penetrance
.
This
Review
examines
the
molecular
and
mechanistic
effects
of
some
of
the
mutations
that
cause
cystinuria
based
on
our
current
understanding
of
the
structural
and
cellular
biology
of
system
b
(
0
,
+
)
.
This
Review
also
describes
the
current
treatments
to
prevent
recurrent
cystine
lithiasis
.
Diseases
Validation
Diseases presenting
"recognition that some cases result from an autosomal dominant etiology with incomplete penetrance"
symptom
cystinuria
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom