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[Asymptomatic classical hereditary xanthinuria type 1].
[]
We
report
on
a
girl
who
was
diagnosed
with
classical
hereditary
xanthinuria
due
to
an
incidental
finding
of
extremely
low
Levels
of
uric
acid
in
the
blood
.
The
girl
is
compLetely
asymptomatic
.
Hereditary
xanthinuria
is
a
rare
autosomal
recessive
disease
that
usually
causes
early
urolithiasis
but
may
cause
rheumatoid
arthritis
-like
disease
and
even
be
associated
with
defects
in
the
formation
of
bone
,
hair
and
teeth
.
In
Israel
it
has
mostly
been
described
in
patients
of
Bedouin
origin
.
Throughout
the
world
,
only
about
150
cases
have
been
described
;
about
two
thirds
of
these
patients
were
asymptomatic
.
Since
the
clinical
presentation
and
age
of
symptom
appearance
are
diverse
,
the
case
raises
questions
as
to
the
required
follow-up
of
these
patients
and
as
to
whether
a
low
oxalate
diet
should
be
initiated
.
