Rare Diseases Symptoms Automatic Extraction
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Xanthine calculi presenting at 1 month of age.
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Xanthinuria
is
a
rare
cause
of
nephrolithiasis
and
is
usually
due
to
an
inherited
abnormality
in
purine
metabolism
.
A
5
-
year
6
-
month
-old
boy
was
assessed
for
a
history
of
recurrent
episodes
of
renal
colic
.
The
child
first
presented
with
symptoms
due
to
xanthine
calculi
at
1
month
of
age
,
the
youngest
presentation
we
were
able
to
identify
.
Xanthine
calculi
,
although
rare
,
should
be
considered
in
the
differential
diagnosis
of
nephrolithiasis
and
ureterovesical
junction
obstruction
in
children
.
Xanthine
calculi
should
also
be
considered
when
symptoms
suggestive
of
urinary
tract
infection
are
present
but
the
urine
culture
is
negative
,
and
when
an
orange-
brown
sediment
is
noted
in
the
urine
or
similar
coloured
stains
are
found
in
the
nappy
.
