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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
.