Öz

Objective: Osteogenesis imperfecta (OI) is an uncommon hereditary disorder of connective tissue that results in fragile bones due to abnormalities in collagen structure. This study aimed to evaluate bone health in children with OI who were hospitalized for fracture treatment.

Materials and Methods: This retrospective observational study reviewed the records of children aged 3–18 years and diagnosed with OI and hospitalized in the pediatric orthopedics ward for fractures between May 1, 2023, and January 31, 2026. The patients’ demographic characteristics, biochemical parameters, bone mineral density (BMD) Z-scores, vertebral radiographs, vitamin D levels, sun exposure, and treatment status were evaluated.

Results: A total of 37 patients participated in the study. The average age of the patients was 10.35±3.82 years, and 78.4% were male. Mean BMD Z-score was -1.44±1.61. Vertebral fractures were present in 27% of the patients. Significant differences were observed between groups stratified by vitamin D levels for age (p = 0.020), serum calcium (p = 0.003), phosphorus (p = 0.005), alkaline phosphatase (p = 0.027), parathyroid hormone (p = 0.018), and BMD Z-score (p = 0.023). Patients with vitamin D deficiency showed lower serum calcium levels and BMD Z-scores. Additionally, a statistically significant positive correlation was identified between BMD Z-score and serum calcium levels (r=0.343; p=0.038).

Conclusion: Evaluation of skeletal health in children with OI should not rely solely on BMD measurements; vertebral fractures, biochemical markers, growth, and environmental factors should also be considered. Collaboration between pediatric orthopedics and pediatric endocrinology is vital for better long-term outcomes.

Kaynakça

  1. Sun Y, Li L, Wang J, Liu H, Wang H. Emerging landscape of osteogenesis imperfecta pathogenesis and therapeutic approaches. ACS Pharmacol Transl Sci 2024; 7(1): 72-96. https://doi.org/10.1021/acsptsci.3c00324
  2. Costache A, Riza AL, Popescu M, Șerban RC, Mituț-Velișcu AM, Streață I. Diagnostic challenges in bone fragility: osteogenesis imperfecta case series. Biomedicines 2025; 13(4) : 865. https://doi.org/10.3390/biomedicines13040865
  3. Jovanovic M, Marini JC. Update on the genetics of osteogenesis imperfecta. Calcif Tissue Int 2024; 115: 891-914. https://doi.org/10.1007/s00223-024-01266-5
  4. Wehrli S, Rohrbach M, Landolt MA. Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis. Orphanet J Rare Dis 2023; 18: 123. https://doi.org/10.1186/s13023-023-02728-z
  5. Colombo GM, Wiese AD, Mercado AE, et al. Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers. Fam Syst Health 2025; 43(3): 482-99. https://doi.org/10.1037/fsh0001004
  6. Hill M, Hammond J, Sharmin M, et al. Living with osteogenesis imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals. Disabil Health J 2022; 15(1): 101168. https://doi.org/10.1016/j.dhjo.2021.101168
  7. Hidalgo Perea S, Green DW. Osteogenesis imperfecta: treatment and surgical management. Curr Opin Pediatr 2021; 33(1): 74-8. https://doi.org/10.1097/MOP.0000000000000968
  8. Chaugule S, Constantinou CK, John AA, et al. Comprehensive review of osteogenesis imperfecta: current treatments and future innovations. Hum Gene Ther 2025; 36(5-6): 597-617. https://doi.org/10.1089/hum.2024.191
  9. Arundel P, Bishop N. Medical management for fracture prevention in children with osteogenesis imperfecta. Calcif Tissue Int 2024; 115: 812-27. https://doi.org/10.1007/s00223-024-01202-7
  10. Desgagnés N, King JA, Kline GA, Seiden-Long I, Leung AA. Use of albumin-adjusted calcium measurements in clinical practice. JAMA Netw Open 2025; 8(1): e2455251. https://doi.org/10.1001/jamanetworkopen.2024.55251
  11. Demir K, Konakçı E, Özkaya G, et al. New features for child metrics: further growth references and blood pressure calculations. J Clin Res Pediatr Endocrinol 2020; 12(2): 125-9. https://doi.org/10.4274/jcrpe.galenos.2019.2019.0127
  12. Zemp J, Erol C, Kaiser E, Aubert CE, Rodondi N, Moutzouri E. A systematic review of evidence-based clinical guidelines for vitamin D screening and supplementation over the last decade. Arch Public Health 2025; 83: 221. https://doi.org/10.1186/s13690-025-01709-x
  13. Datir RR, Datir RR, Datir PR, Heyrani N. A systematic review on the efficacy of bisphosphonates on osteogenesis imperfecta. Cureus 2025; 17(6): e86549. https://doi.org/10.7759/cureus.86549
  14. Eylon S, Kornitzer E, Wever C, Rigbi A, Weiss PL, Meyer S. Reducing fracture incidence in children with osteogenesis imperfecta: contribution of orthotics to bisphosphonates treatment. Disabil Rehabil 2024; 46(7): 1416-21. https://doi.org/10.1080/09638288.2023.2198259
  15. Arshad F, Bishop N. Osteogenesis imperfecta in children. Bone 2021; 148: 115914. https://doi.org/10.1016/j.bone.2021.115914
  16. Muldiiarov V, Buesing K, Wallace MJ. Pediatric scoliosis in osteogenesis imperfecta: from genetic mechanisms to therapeutic strategies. Orthop Surg 2025; 17(11): 3036-47. https://doi.org/10.1111/os.70170
  17. Coccia F, Pietrobelli A, Zoller T, et al. Vitamin D and osteogenesis imperfecta in pediatrics. Pharmaceuticals (Basel) 2023; 16(5): 690. https://doi.org/10.3390/ph16050690
  18. Gnoli M, Brizola E, Tremosini M, Di Cecco A, Sangiorgi L. Vitamin D and bone fragility in individuals with osteogenesis imperfecta: a scoping review. Int J Mol Sci 2023; 24(11): 9416. https://doi.org/10.3390/ijms24119416
  19. Futagawa N, Hasegawa K, Miyahara H, Tanaka H, Tsukahara H. Trabecular bone scores in children with osteogenesis imperfecta respond differently to bisphosphonate treatment depending on disease severity. Front Pediatr 2024; 12: 1500023. https://doi.org/10.3389/fped.2024.1500023
  20. Derocher CE, Mulcrone JE, Carter EM, Raggio CL. Health-related quality of life in individuals with osteogenesis imperfecta in the United States: a cross-sectional study. Orphanet J Rare Dis 2025; 20: 537. https://doi.org/10.1186/s13023-025-04073-9
  21. Al Arab H, Flammier S, Espitalier M, Bacchetta J, Fouillet-Desjonqueres M. Evaluation of the benefits of adapted physical activity in children and adolescents with osteogenesis imperfecta: the MOVE-OI trial. Orphanet J Rare Dis 2025; 20: 175. https://doi.org/10.1186/s13023-025-03678-4
  22. Garganta MD, Jaser SS, Lazow MA, et al. Cyclic bisphosphonate therapy reduces pain and improves physical functioning in children with osteogenesis imperfecta. BMC Musculoskelet Disord 2018; 19: 344. https://doi.org/10.1186/s12891-018-2252-y
  23. Liu J, Zhang Y, Yu W, et al. TBS as a complementary tool for assessing vertebral fractures and spinal deformity in children and adolescents with osteogenesis imperfecta. Osteoporos Int 2025; 36: 725-35. https://doi.org/10.1007/s00198-025-07423-2
  24. Arundel P, Borg SA. Early life management of osteogenesis imperfecta. Curr Osteoporos Rep 2023; 21: 779-86. https://doi.org/10.1007/s11914-023-00823-5
  25. Sakka SD, Cheung MS. Management of primary and secondary osteoporosis in children. Ther Adv Musculoskelet Dis 2020; 12: 1759720X20969262. https://doi.org/10.1177/1759720X20969262

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Nasıl atıf yapılır

1.
Turhan B, Yaşar NE. Bone health assessment in children with osteogenesis imperfecta from a pediatric endocrinology perspective. Turk J Pediatr Dis. 2026;Early View:1-7. https://doi.org/10.12956/TJPD.2026.1336