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Liver transplantation for primary hyperoxaluria type 1: a single-center experience during two decades in Japan.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
type
-
1
(
PH
1
)
is
an
autosomal
recessive
disorder
caused
by
impaired
activity
of
hepatic
peroxisomal
alanine-glyoxylate
aminotransferase
that
leads
to
end-
stage
renal
disease
(
ESRD
)
.
A
definitive
diagnosis
is
often
delayed
until
ESRD
appears
.
Based
on
the
etiology
,
liver
transplantation
(
LT
)
seems
to
be
the
definitive
treatment
.
Three
PH
1
patients
underwent
LT
at
our
institution
during
two
decades
.
Two
of
the
patients
had
family
histories
of
cryptogenic
ESRD
.
All
three
showed
disease
onset
in
childhood
,
but
the
definitive
diagnosis
was
delayed
in
two
cases
(
17
and
37
Â
years
of
age
)
.
These
delayed
cases
resulted
in
ESRD
,
and
hemodialysis
(
HD
)
had
been
introduced
before
LT
.
One
patient
received
domino
LT
,
and
the
other
two
underwent
living-donor
LT
(
LDLT
)
.
One
patient
finally
died
of
sepsis
,
and
was
unable
to
receive
a
kidney
transplantation
(
KT
)
after
the
domino
LT
.
One
patient
did
not
show
ESRD
,
and
did
not
have
to
undergo
KT
after
LDLT
,
although
extracorporeal
shock
wave
lithotripsy
was
required
for
residual
ureterolithiasis
(
8
Â
years
after
LDLT
)
.
The
third
patient
had
an
uneventful
course
after
LDLT
and
received
living-donor
KT
from
the
same
donor
8
Â
months
after
LDLT
.
Subsequently
,
HD
was
successfully
withdrawn
.
Establishment
of
a
definitive
diagnosis
of
PH
1
is
essential
.
If
a
methodology
for
early
diagnosis
and
an
intensive
care
strategy
for
neonates
and
infants
during
the
waiting
time
become
well-established
,
a
timely
and
preemptive
LT
alone
can
provide
a
good
chance
of
cure
for
PH
1
patients
.
Diseases
Validation
Diseases presenting
"an intensive care strategy for neonates and infants during the waiting time become well-established"
symptom
primary hyperoxaluria type 1
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