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A random Abstract
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Late diagnosis of primary hyperoxaluria after failed kidney transplantation.
[primary hyperoxaluria type 1]
Primary
hyperoxaluria
type
1
(
PH
1
)
is
a
rare
autosomal
recessive
inborn
error
of
the
glyoxylate
metabolism
that
is
based
on
absence
,
deficiency
or
mislocalization
of
the
liver
-
specific
peroxisomal
enzyme
alanine
:
glyoxylate
aminotransferase
.
Hyperoxaluria
leads
to
recurrent
formation
of
calculi
and
/
or
nephrocalcinosis
and
often
early
end-
stage
renal
disease
(
ESRD
)
accompanied
by
systemic
calcium
oxalate
crystal
deposition
.
In
this
report
,
we
describe
an
adult
female
patient
with
only
one
stone
passage
before
development
of
ESRD
.
With
unknown
diagnosis
of
PH
,
the
patient
received
an
isolated
kidney
graft
and
developed
an
early
onset
of
graft
failure
.
Although
initially
presumed
as
an
acute
rejection
,
the
biopsy
revealed
calcium
oxalate
crystals
,
which
then
raised
a
suspicion
of
primary
hyperoxaluria
.
The
diagnosis
was
later
confirmed
by
hyperoxaluria
,
elevated
plasma
oxalate
levels
and
mutation
of
the
AGXT
gene
,
showing
the
patient
to
be
compound
heterozygous
for
the
c
.
33
_
34
InsC
and
c
.
508
G
>
A
mutations
.
Plasma
oxalate
levels
did
not
decrease
after
high
-dose
pyridoxine
treatment
.
Based
on
this
case
report
,
we
would
recommend
in
all
patients
even
with
a
minor
history
of
nephrolithiasis
but
progression
to
chronic
renal
failure
to
exclude
primary
hyperoxaluria
before
isolated
kidney
transplantation
is
considered
.