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[Recurrent urinary lithiasis revealing hereditary xanthinuria].
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Hereditary
xanthinuria
,
due
to
a
purine
metabolism
disorder
,
is
a
rare
cause
of
urinary
lithiasis
in
children
.
We
report
the
case
of
a
child
aged
3
and
a
half
years
,
who
presented
recurrent
urinary
lithiasis
that
led
to
destruction
of
the
right
kidney
.
Infrared
spectrophotometric
analysis
of
the
calculus
concluded
that
it
was
composed
of
100
%
xanthine
.
Laboratory
tests
showed
hypouricemia
and
hypouricosuria
with
elevated
urinary
excretion
of
oxypurines
.
These
findings
led
to
a
diagnosis
of
hereditary
xanthinuria
.
Early
diagnosis
of
this
rare
disease
is
essential
to
avoid
its
complications
.
Metabolic
causes
must
be
sought
in
children
with
lithiasis
.
