Rare Diseases Symptoms Automatic Extraction
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Xanthinuria in a family of Cavalier King Charles spaniels.
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Xanthine
calculi
were
found
in
a
7
-
month
-old
male
Cavalier
King
Charles
spaniel
with
urethral
obstruction
and
renal
insufficiency
.
Because
the
only
two
other
reported
cases
of
naturally
occurring
xanthine
urolithiasis
concerned
a
Cavalier
King
Charles
and
a
King
Charles
spaniel
the
urine
of
the
littermates
and
parents
of
the
patient
were
also
examined
for
xanthinuria
.
Semi-quantitative
analysis
revealed
high
urine
concentrations
of
hypoxanthine
and
xanthine
in
the
patient
and
his
female
littermate
.
Quantitative
analysis
by
high
-pressure
liquid
chromatography
(
HPLC
)
of
the
urine
samples
from
the
family
of
this
Cavalier
King
Charles
spaniel
and
nine
control
dogs
revealed
that
hypoxanthine
and
xanthine
excretion
was
30
and
60
times
higher
in
the
affected
patient
and
the
female
littermate
than
in
the
others
dogs
.
The
pattern
of
xanthinuria
,
which
is
caused
by
a
deficiency
of
the
enzyme
xanthine
oxidase
,
in
the
relation
diagram
of
this
family
of
Cavalier
King
Charles
Spaniels
was
consistent
with
an
autosomal
recessive
mode
of
inheritance
.
