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An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.
[cystinuria]
Cystinuria
is
an
autosomal
recessive
disease
caused
by
the
mutation
of
either
SLC
3
A
1
gene
encoding
for
rBAT
(
type
A
cystinuria
)
or
SLC
7
A
9
gene
encoding
for
b
0
,
+
AT
(
type
B
cystinuria
)
.
Here
,
we
evidenced
in
a
commonly
used
congenic
129
S
2
/
SvPasCrl
mouse
substrain
a
dramatically
high
frequency
of
kidney
stones
that
were
similar
to
those
of
patients
with
cystinuria
.
Most
of
129
S
2
/
SvPasCrl
exhibited
pathognomonic
cystine
crystals
in
urine
and
an
aminoaciduria
profile
similar
to
that
of
patients
with
cystinuria
.
In
addition
,
we
observed
a
heterogeneous
inflammatory
infiltrate
and
cystine
tubular
casts
in
the
kidney
of
cystinuric
mice
.
As
compared
to
another
classical
mouse
strain
,
C
5
7
BL
/
6
J
mice
,
129
S
2
/
SvPasCrl
mice
had
an
increased
mortality
associated
with
bilateral
obstructive
hydronephrosis
.
In
129
S
2
/
SvPasCrl
mice
,
the
heavy
subunit
rBAT
of
the
tetrameric
transporter
of
dibasic
amino
acids
was
absent
in
proximal
tubules
and
we
identified
a
single
pathogenic
mutation
in
a
highly
conserved
region
of
the
Slc
3
a
1
gene
.
This
novel
mouse
model
mimicking
human
disease
would
allow
us
further
pathophysiological
studies
and
may
be
useful
to
analyse
the
crystal
/
tissue
interactions
in
cystinuria
.
Diseases
Validation
Diseases presenting
"dramatically high frequency"
symptom
cystinuria
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