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Skeletal features of primary hyperoxaluria type 1, revisited.
[primary hyperoxaluria type 1]
The
purpose
of
this
study
was
to
describe
the
skeletal
manifestations
of
primary
hyperoxaluria
type
1
(
PH
1
)
,
the
most
common
of
the
primary
hyperoxalurias
.
We
clinically
and
radiographically
reviewed
12
consecutive
patients
diagnosed
with
PH
1
,
aged
between
2
and
17
years
.
All
patients
had
evidence
of
some
type
of
renal
involvement
,
4
of
whom
were
at
end-
stage
renal
disease
(
ESRD
)
and
were
under
dialysis
.
The
main
symptom
was
skeletal
pain
and
was
present
only
in
the
4
severely
involved
patients
and
appeared
during
the
second
year
of
dialysis
.
The
2
most
severely
involved
patients
had
evidence
of
pathological
fractures
.
Radiological
signs
were
present
in
patients
with
or
without
symptoms
.
These
radiological
signs
were
of
two
distinct
types
:
those
almost
specific
of
oxalosis
,
such
as
dense
and
radiolucent
metaphyseal
bands
and
vertebral
osteocondensations
,
which
are
found
mainly
in
the
severely
involved
individuals
,
and
those
less
specific
,
such
as
signs
of
renal
osteodystrophy
,
which
are
also
found
in
less
severely
involved
patients
.
Interestingly
,
our
study
revealed
the
presence
of
spondylolysis
in
25
%
of
cases
.
This
latter
finding
is
unique
and
has
not
previously
been
reported
in
the
literature
.
The
skeletal
manifestations
of
PH
1
include
specific
and
less
specific
radiological
signs
,
with
some
patients
being
asymptomatic
,
and
others
presenting
with
bone
pain
and
pathological
fractures
,
as
well
as
spondylolysis
.
Diseases
Validation
Diseases presenting
"and those less specific"
symptom
primary hyperoxaluria type 1
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