Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis
Authors' conclusion
These data demonstrate that bone density and biochemical bone turnover markers are indicators of ADO severity as defined by fracture number.
Study context
- Population
- Individuals with autosomal dominant osteopetrosis (ADO), adults and children42 adults · 12 children
- Participants
- 54 individuals
- Outcome
- Correlation of baseline BMD and bone turnover markers with self-reported lifetime fracture number
- Follow-up
- Baseline
Methodological detailsbaseline data from a natural history study
- Baseline data from a natural history study
Main finding
As reported in the abstract
Correlation with lifetime fracture number in adults
- LS volumetric BMD Z-score
- r = 0.87, p < .001
- Z-scores for LS areal BMD (aBMD), FN and TH aBMD
- r = 0.77 to 0.78; p < .001
- Tartrate resistant acid phosphatase (positive correlation)
- r = 0.52, p = .004
- Serum C-telopeptide (inverse correlation)
- r = −0.60, p < .001
- Urine N-telopeptide/creatinine ratio (inverse correlation)
- r = −0.35, p = .047
Observational data: associations, not effects.
Further findings
Correlations limited to adults with disease-causing CLCN7 variants
- Correlation coefficients between fractures, BMD and bone turnover markers similar in 37 adults with disease-causing CLCN7 variants
CLCN7 G215R vs other CLCN7 variants
- No statistically significant differences in fracture, bone density measures or bone turnover markers
Original publication
Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis. J Bone Miner Res. Published 6 September 2025. doi:10.
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