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Adult with primary hyperoxaluria type 1 regrets not receiving preemptive liver transplantation during childhood: report of a case.
[primary hyperoxaluria type 1]
A
32
-
year
-old
male
was
suspected
to
have
primary
hyperoxaluria
type
1
(
PH
1
)
and
eventually
underwent
liver
transplantation
(
LT
)
.
He
was
diagnosed
with
nephrolithiasis
at
9
Â
years
of
age
.
Right
heminephrectomy
was
performed
for
a
staghorn
calculus
.
He
underwent
urethrotomy
for
urinary
retention
at
12
Â
years
of
age
.
Percutaneous
nephrolithotomy
was
performed
for
nephrolithiasis
when
he
was
16
Â
years
of
age
.
He
underwent
frequent
extracorporeal
shock
wave
lithotripsy
for
recurrent
nephrolithiasis
from
18
to
24
Â
years
of
age
.
PH
1
was
suspected
at
32
Â
years
of
age
,
and
pharmacological
therapy
was
also
initiated
.
He
developed
renal
failure
at
36
Â
years
of
age
,
which
was
treated
with
intensive
hemodialysis
.
A
definitive
diagnosis
of
PH
1
was
made
based
on
a
liver
needle
biopsy
1
Â
month
later
.
He
received
a
living-donor
LT
at
38
Â
years
of
age
,
and
a
living-donor
kidney
transplant
from
the
same
donor
8
Â
months
later
.
Though
he
made
a
good
recovery
,
an
early
diagnosis
and
preemptive
LT
are
important
for
PH
1
patients
.