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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
"pain"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
aniridia
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
coats disease
congenital diaphragmatic hernia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
lamellar ichthyosis
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
trochlear dysplasia
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
This symptom has already been validated