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Cystinuria: an inborn cause of urolithiasis.
[cystinuria]
Cystinuria
(
OMIM
2
2010
0
)
is
an
inborn
congenital
disorder
characterised
by
a
defective
cystine
metabolism
resulting
in
the
formation
of
cystine
stones
.
Among
the
heterogeneous
group
of
kidney
stone
diseases
,
cystinuria
is
the
only
disorder
which
is
exclusively
caused
by
gene
mutations
.
So
far
,
two
genes
responsible
for
cystinuria
have
been
identified
:
SLC
3
A
1
(
chromosome
2
p
21
)
encodes
the
heavy
subunit
rBAT
of
a
renal
b
(
0
,
+
)
transporter
while
SLC
7
A
9
(
chromosome
19
q
12
)
encodes
its
interacting
light
subunit
b
(
0
,
+
)
AT
.
Mutations
in
SLC
3
A
1
are
generally
associated
with
an
autosomal-recessive
mode
of
inheritance
whereas
SLC
7
A
9
variants
result
in
a
broad
clinical
variability
even
within
the
same
family
.
The
detection
rate
for
mutations
in
these
genes
is
larger
than
85
%
,
but
it
is
influenced
by
the
ethnic
origin
of
a
patient
and
the
pathophysiological
significance
of
the
mutations
.
In
addition
to
isolated
cystinuria
,
patients
suffering
from
the
hypotonia
-
cystinuria
syndrome
have
been
reported
carrying
deletions
including
at
least
the
SLC
3
A
1
and
the
PREPL
genes
in
2
p
21
.
By
extensive
molecular
screening
studies
in
large
cohort
of
patients
a
broad
spectrum
of
mutations
could
be
identified
,
several
of
these
variants
were
functionally
analysed
and
thereby
allowed
insights
in
the
pathology
of
the
disease
as
well
as
in
the
renal
trafficking
of
cystine
and
the
dibasic
amino
acids
.
In
our
review
we
will
summarize
the
current
knowledge
on
the
physiological
and
the
genetic
basis
of
cystinuria
as
an
inborn
cause
of
kidney
stones
,
and
the
application
of
this
knowledge
in
genetic
testing
strategies
.
Diseases
Validation
Diseases presenting
"extensive molecular screening studies in large cohort"
symptom
cystinuria
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