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[Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy].
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It
is
the
intention
of
this
report
to
identify
appropriate
analytical
tests
which
allow
for
the
monitoring
of
allopurinol
treatment
of
patients
with
Lesch-
Nyhan
syndrome
and
the
prevention
of
uric
acid
or
xanthine
lithiasis
.
A
12
year
old
boy
with
Lesch-
Nyhan
syndrome
presented
with
signs
of
compulsive
automutilation
,
motoric
and
mental
retardation
and
cerebral
palsy
.
Paraclinical
patient
showed
hyperuricemia
and
significant
hyperuricosuria
.
During
administration
of
allopurinol
(
200
mg
/
d
)
he
developed
fever
,
an
urinary
tract
infection
and
dilatation
of
pelviureteric
junction
which
was
suspected
of
being
nephrolithiasis
.
During
hospitalisation
,
the
purine
metabolism
was
intensively
monitored
.
The
allopurinol
treatment
was
adjusted
according
to
clinical
and
laboratory
data
.
The
renal
scanning
diagnostic
showed
the
develepment
of
a
functionally
impaired
left
kidney
.
Later
this
kidney
had
no
part
in
tubulo-secretorical
function
.
It
was
necessary
to
remove
surgical
two
renal
stones
.
The
composition
of
the
stones
was
exclusively
xanthine
.
Serum
concentration
and
urinary
excretion
of
xanthine
and
hypoxanthine
were
massively
enlarged
.
The
elimination
of
uric
acid
in
urine
was
normal
.
But
subsequently
,
the
left
kidney
had
to
be
removed
despite
intensive
care
.
Lesch-
Nyhan
syndrome
is
a
disorder
caused
by
congenital
absence
of
the
enzyme
hypoxanthineguanine
phosphoribosyltransferase
and
an
increase
of
the
enzyme
activity
of
adenine
phosphoribosyltransferase
.
Treatment
should
be
adjusted
to
patient
's
age
and
weight
.
An
adapt
treatment
with
allopurinol
and
optimal
fluid
intake
reduce
the
risk
of
uric
acid
or
xanthine
lithiasis
.
Laboratory
monitoring
includes
testings
for
serum
concentration
and
urinary
excretion
of
uric
acid
,
xanthine
and
hypoxanthine
.
Sole
a
normal
concentration
of
uric
acid
is
not
sufficient
for
therapy
control
.
Assessment
of
the
urine
sediment
by
microscopy
or
infrared
spectroscopy
will
enable
early
detection
of
uric
acid
or
xanthine
lithiasis
.
