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Bone metabolism in oxalosis: a single-center study using new imaging techniques and biomarkers.
[primary hyperoxaluria type 1]
The
deposition
of
calcium
oxalate
crystals
in
the
kidney
and
bone
is
a
hallmark
of
primary
hyperoxaluria
type
1
(
PH
1
)
.
We
report
here
an
evaluation
of
the
bone
status
of
12
PH
1
children
based
on
bone
biomarkers
[
parathyroid
hormone
,
vitamin
D
,
fibroblast
growth
factor
23
(
FGF
23
)
]
and
radiological
assessments
(
skeletal
age
,
three
-dimensional
high
-resolution
peripheral
quantitative
computed
tomography
,
HR
-pQCT
)
carried
out
within
the
framework
of
a
cross-sectional
single
-center
study
.
The
controls
consisted
of
healthy
and
children
with
chronic
kidney
disease
already
enrolled
in
local
bone
and
mineral
metabolism
studies
.
The
mean
age
(
+
or
-
standard
deviation
)
age
of
the
patients
was
99
(
+
or
-
63
)
months
.
Six
children
suffered
from
fracture
.
Bone
maturation
was
accelerated
in
five
patients
,
four
of
whom
were
<
5
years
.
The
combination
of
new
imaging
techniques
and
biomarkers
highlighted
new
and
unexplained
features
of
PH
1
:
advanced
skeletal
age
in
young
PH
1
patients
,
increased
FGF
23
levels
and
decreased
total
volumetric
bone
mineral
density
with
bone
microarchitecture
alteration
.
Diseases
Validation
Diseases presenting
"growth factor"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
aniridia
cadasil
cholangiocarcinoma
coats disease
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
esophageal carcinoma
esophageal squamous cell carcinoma
hodgkin lymphoma, classical
holt-oram syndrome
inclusion body myositis
kallmann syndrome
krabbe disease
liposarcoma
lymphangioleiomyomatosis
oculocutaneous albinism
oral submucous fibrosis
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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