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A random Abstract
Our Project
Our Team
Update on cystinuria.
[cystinuria]
Cystinuria
is
a
rare
genetic
disease
with
increased
urinary
excretion
of
the
poorly
soluble
amino
acid
cystine
.
It
can
lead
to
significant
morbidity
in
affected
patients
due
to
the
often
large
and
recurrent
resulting
kidney
stones
.
Treatment
is
focused
on
the
prevention
of
stone
formation
.
There
have
been
few
advances
in
the
available
therapeutic
options
for
the
disorder
in
the
last
15
-
20
years
.
Although
no
new
treatments
have
emerged
in
the
prevention
of
cystinuria
in
recent
years
,
several
developments
hold
promise
for
advancing
the
field
of
caring
for
affected
patients
.
A
new
method
of
measuring
urinary
cystine
and
estimating
potential
for
stone
formation
,
called
cystine
capacity
,
may
prove
to
be
a
useful
tool
in
monitoring
the
disease
.
The
discoveries
of
the
mutations
that
cause
cystinuria
have
led
to
a
new
classification
system
based
on
genotype
that
is
more
accurate
than
the
prior
phenotypic
one
.
The
finding
of
new
compounds
that
inhibit
cystine
crystal
growth
in
vitro
,
now
being
tested
in
animal
models
,
may
lead
to
new
potential
therapies
in
years
to
come
.
The
Rare
Kidney
Stone
Consortium
has
developed
a
registry
and
hopes
to
lead
further
efforts
in
dealing
with
cystinuria
.
With
several
recent
advances
in
the
monitoring
and
treatment
of
cystinuria
,
and
the
gathering
of
clinical
patient
data
,
there
are
now
opportunities
for
new
management
protocols
and
therapies
.
