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Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase.
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Xanthine
urolithiasis
was
found
in
a
4
-
year
-old
spayed
female
Himalayan
cat
with
a
10
-
month
history
of
intermittent
haematuria
and
dysuria
.
Ultrasonographs
indicated
the
existence
of
several
calculi
in
the
bladder
that
were
undetectable
by
survey
radiographic
examination
.
Four
bladder
stones
were
removed
by
cystotomy
.
The
stones
were
spherical
brownish-yellow
and
their
surface
was
smooth
and
glossy
.
Quantitative
mineral
analysis
showed
a
representative
urolith
to
be
composed
of
more
than
95
%
xanthine
.
Ultrasonographic
examination
of
the
bladder
4
.
5
months
postoperatively
indicated
the
recurrence
of
urolithiasis
.
Analysis
of
purine
concentration
in
urine
and
blood
showed
that
the
cat
excreted
excessive
amounts
of
xanthine
.
In
order
to
test
the
hypothesis
that
xanthinuria
was
caused
by
a
homozygote
of
the
inherited
mutant
allele
of
a
gene
responsible
for
deficiency
of
enzyme
activity
in
purine
degradation
pathway
,
the
allele
composition
of
xanthine
dehydrogenase
(
XDH
)
gene
(
one
of
the
candidate
genes
for
hereditary
xanthinuria
)
was
evaluated
.
The
cat
with
xanthinuria
was
a
heterozygote
of
the
polymorphism
.
A
single
nucleotide
polymorphism
analysis
of
the
cat
XDH
gene
strongly
indicated
that
the
XDH
gene
of
the
patient
cat
was
composed
of
two
kinds
of
alleles
and
ruled
out
the
hypothesis
that
the
cat
inherited
the
same
recessive
XDH
allele
suggesting
no
activity
from
a
single
ancestor
.