A new autosomal dominant form of early onset primary osteoporosis in a 3-generation Finnish family

Abstract

patients with ALL. Therefore, our aim was to evaluate changes in BMD throughout the ALL therapy. 50 Caucasian patients (32 boys and 18 girls, mean age at the ALL diagnosis/onset of therapy 6.9±4.8 years) were enrolled. The patients were treated according to relevant protocols for 9.2±2.0 months. In the course of the therapy, the patients have been receiving regular daily supplements of 500–1000 mg of calcium and 800 IU of vitamin D. Spinal BMD (L1–L4) was measured by DXA (Hologic Delphi S/A 7052; CV 1%, LSC 2.7%) at 7.0± 4.8 years and at the time of the first complete remission, i.e. after 12 months (at the age of 8.0±4.9 years). The BMD values were expressed as Z-scores (BMD-Z) and height-toage-adjusted Z-scores (BMD-HAZ). At the ALL diagnosis/ onset of therapy the BMD-Z was low (mean −0.59±1.30 SD; p=0.002) in comparison to the reference values, however the BMD-HAZ did not differ from the reference data (mean −0.02±1.22 SD; p=0.901). After 1 year there was a slight increase in absolute values of BMD (from 0.574±0.168 g/cm to 0.596±0.142 g/cm) which approached statistical significance (p=0.06), however, the changes in BMD Z-score or BMD-HAZ were not significant at all (p=0.975 and p=0.498, respectively). We did not find any correlations between the posttreatment BMD-Z and cumulative doses of doxorubicin and dexamethasone (r=0.04 and r=0.01, respectively), neither did we find any relationship between post-treatment BMD-HAZ and the cumulative doses of doxorubicin and dexamethasone (r= −0.08 and r=0.15, respectively). In conclusion, in children with ALL, the height-to-age-adjusted Z-scores of BMD were normal at the onset of therapy, and there were no significant changes in BMD-Z and BMD-HAZ after 1 year. As this is contrary to other findings in children with ALL, where BMD was seriously affected by the antineoplastic treatment, we might hypothesize that the calcium and vitamin D supplementation in our patients had a protective effect on bone mass.