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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
.
Diseases
Validation
Diseases presenting
"female patient"
symptom
achondroplasia
adrenal incidentaloma
alexander disease
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
carcinoma of the gallbladder
coats disease
cohen syndrome
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
fabry disease
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
kallmann syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
malignant atrophic papulosis
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
von hippel-lindau disease
waldenström macroglobulinemia
x-linked adrenoleukodystrophy
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