Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study.

Autor: Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Ishimi T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Yamada C; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Nakano Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Nakayama H; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.; The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Jazyk: angličtina
Zdroj: PloS one [PLoS One] 2023 Aug 29; Vol. 18 (8), pp. e0290812. Date of Electronic Publication: 2023 Aug 29 (Print Publication: 2023).
DOI: 10.1371/journal.pone.0290812
Abstrakt: Osteogenesis imperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Areal bone mineral density (BMD), evaluated by dual-energy X-ray absorptiometry (DXA), is used to assess bone brittleness. The height-adjusted BMD Z-score (BMDHAZ) is calculated in children and adolescents with OI to reduce the confounding factor of short stature. However, even with the BMDHAZ, severity evaluation in children and adolescents with OI is challenging because certain abnormalities in bone quality cannot be accurately assessed by BMD analysis. The trabecular bone scores (TBS) and bone mineral apparent density (BMAD), which represent the structural integrity of bone and bone-size-associated BMD, respectively, are associated with fracture risk. Recently, age- and sex-specific reference ranges have been reported, enabling the calculation of Z-scores for children. To evaluate which density measurements show the highest correlation with fracture risk, we analyzed the associations between the Z-scores of TBS, BMAD, and BMDHAZ, fracture rate, and genetic variants. We retrospectively reviewed 42 participants with OI aged 5 to 20 years who underwent DXA. COL1A1/2 pathogenic variants were detected in 41 of the 42 participants. In participants with nonsense and frameshift variants (n = 17) resulting in haploinsufficiency and mild phenotype, the TBS Z-score was negatively correlated with fracture rate (FR) (r = -0.50, p = 0.042). In participants with glycine substitution (n = 9) causing the severe phenotype, the BMAD Z-scores were negatively correlated with FR (r = -0.74, p = 0.022). No correlation between the BMDHAZ and FR was observed in both groups. These findings suggest that the TBS and BMAD are useful in assessing children and adolescents with OI with specific genetic variants.
Competing Interests: The authors have declared that no competing interests exist.
(Copyright: © 2023 Ohata et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)
Databáze: MEDLINE
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