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Combined split liver and kidney transplantation in a three-year-old child with primary hyperoxaluria type 1 and complete thrombosis of the inferior vena cava.
[primary hyperoxaluria type 1]
PH
1
is
an
inborn
error
of
the
metabolism
in
which
a
functional
deficiency
of
the
liver
-
specific
peroxisomal
enzyme
,
AGT
,
causes
hyperoxaluria
and
hyperglycolic
aciduria
.
Infantile
PH
1
is
the
most
aggressive
form
of
this
disease
,
leading
to
early
nephrocalcinosis
,
systemic
oxalosis
,
and
end-
stage
renal
failure
.
Infantile
PH
1
is
rapidly
fatal
in
children
unless
timely
liver
-kidney
transplantation
is
performed
to
correct
both
the
hepatic
enzyme
defect
and
the
renal
end-organ
damage
.
The
surgical
procedure
can
be
further
complicated
in
infants
and
young
children
,
who
are
at
higher
risk
for
vascular
anomalies
,
such
as
IVC
thrombosis
.
Although
recently
a
limited
number
of
children
with
IVC
thrombosis
have
underwent
successful
kidney
transplantation
,
successful
multi-organ
transplantation
in
a
child
with
complete
IVC
thrombosis
is
quite
rare
.
We
report
here
the
interesting
and
technically
difficult
case
of
a
three
-
yr
-old
girl
with
a
complete
thrombosis
of
the
IVC
,
who
was
the
recipient
of
combined
split
liver
and
kidney
transplantation
for
infantile
PH
1
.
Although
initial
delayed
renal
graft
function
with
mild
-
to
-
moderate
acute
rejection
was
observed
,
the
patient
rapidly
regained
renal
function
after
steroid
boluses
,
and
was
soon
hemodialysis-independent
,
with
good
diuresis
.
Serum
and
plasma
oxalate
levels
progressively
decreased
;
although
,
to
date
they
are
still
above
normal
.
Hepatic
and
renal
function
indices
were
at
,
or
approaching
,
normal
values
when
the
patient
was
discharged
15
-
wk
post-transplant
,
and
the
patient
continues
to
do
well
,
with
close
and
frequent
follow-up
.
This
is
the
first
report
of
a
successful
double
-organ
transplant
in
a
pediatric
patient
presenting
with
infantile
PH
1
complicated
by
complete
IVC
thrombosis
.
Diseases
Validation
Diseases presenting
"limited number"
symptom
22q11.2 deletion syndrome
achondroplasia
cholangiocarcinoma
congenital diaphragmatic hernia
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
erythropoietic protoporphyria
liposarcoma
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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