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Successful outcome after early combined liver and en bloc-kidney transplant in an infant with primary hyperoxaluria type 1: a case report.
[primary hyperoxaluria type 1]
PH
1
is
a
metabolic
disorder
characterized
by
urolithiasis
and
the
accumulation
of
oxalate
crystals
in
the
kidneys
and
other
organs
.
Although
patients
often
first
present
with
renal
failure
,
PH
1
results
from
a
deficiency
of
the
hepatic
peroxisomal
enzyme
AGT
.
Ultimately
only
liver
transplantation
will
cure
the
underlying
metabolic
defect
.
Herein
,
we
report
the
case
of
a
three
-
month
-old
male
infant
diagnosed
with
PH
and
treated
using
a
combined
liver
and
en
bloc-kidney
transplant
from
a
single
donor
.
At
the
time
of
transplant
,
the
patient
was
11
months
old
and
weighed
7
.
9
kg
.
He
received
a
full
size
liver
graft
and
en
bloc
kidneys
from
a
two
-
yr
-old
donor
.
At
36
months
post-transplant
,
the
patient
is
steadily
growing
with
normal
renal
and
hepatic
function
.
This
is
one
of
the
first
reports
of
successful
liver
and
en
bloc-kidney
transplantation
with
abdominal
compartment
expansion
by
PTFE
for
the
infantile
form
of
PH
1
in
a
high
risk
child
before
one
yr
of
age
.
Prompt
diagnosis
and
early
referral
to
a
specialized
center
for
liver
and
kidney
replacement
offer
the
best
chance
for
survival
for
infants
with
this
otherwise
fatal
disease
.
Diseases
Validation
Diseases presenting
"renal failure"
symptom
cholangiocarcinoma
congenital diaphragmatic hernia
cystinuria
erdheim-chester disease
fabry disease
heparin-induced thrombocytopenia
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kindler syndrome
legionellosis
oculocutaneous albinism
primary hyperoxaluria type 1
scrub typhus
systemic capillary leak syndrome
This symptom has already been validated
