Imperfect osteogenesis: pathogenesis, classification, clinical picture, treatment

Authors

  • Vladyslav Povorozniuk
  • Olena Grechanina
  • Nataliya Balatska
  • Volodymyr Vayda

DOI:

https://doi.org/10.15674/0030-598720094110-117

Keywords:

osteogenesis imperfecta, classification, treatment bisphosphonates

Abstract

The authors present their review of special literature and results of treatment of patients with imperfect osteogenesis from different age groups. Emphasis is made on the pathogenesis of this disease; the above pathogenesis is caused by different variants of mutation of genes, which encode components of the chain of type I collagen. Kinds of imperfect osteogenesis, which are not related to pathology of the above collagen, are pointed out. The review describes in detail the clinical picture, includes a classification and characteristics of types of imperfect osteogenesis, contains diagnostic criteria and generalized results of treatment of this severe pathology. Results of the authors’ own studies are based on use of Pamidront for treating children. An algorithm for its prescription to patients with imperfect osteogenesis is described.

References

  1. Allgrove J. Calcium and bone disorders in children and adolescents [Text] / J. Allgrove, N.J. Shaw. — 2009. — 300 pp.
  2. Astrom A. Benefi cial eff ff ect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta [Text] / A. Astrom, S. Soderhall // Arch. Dis. Child. — 2002. — Vol. 86. — P. 356–364.
  3. Astrom J. Benefi cial Modeling eff ff ect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta [Text] / A. Astrom, S. Soderhall // Arch. Dis. Child. — 2002. — Vol. 86. — P. 356–364.
  4. Bruck Syndrome [Text] / V. Datta, A. Sinha, A. Saili, S. Nangia // Indian J. Pediatr. — 2005. — Vol. 72 (5). — P. 441–442.
  5. Bruck syndrome: Osteogenesis imperfecta with congenital joint contractures [Text] / E.A. Duro Friedl, L. Ferrari Mayans, L.N. Desalvo Portal et.al. // An Pediatr (Barc). — 2008. — Vol. 69 (1). — P. 90–91. [Medline].
  6. Crabtree N.J. Longitudinal changes in untreated children with osteogenesis imperfecta [Text] / N.J. Crabtree, W. Hogler, N.J. Shaw // Bone. — 2009. — Vol. 45. — P. 75.
  7. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta [Text] / F.H. Glorieux et al. // N. Engl. J. Med. — 1998. — Vol. 339. — P. 947–952.
  8. Defi ciency of cartilage-associated protein in recessive lethal osteogenesis imperfecta [Text] / A.M. Barnes, W. Chang, R. Morello et al. // Engl J. Med. — 2006. — Vol. 355. — P. 2757–2764.
  9. Dempster D.W. New concepts in bone remodeling [Text] / D.W. Dempster // Dynamics of bone and catilage metabolism: principles and clinical applications. — Academic Press. San Diego, California, USA: 1999. — P. 261–273.
  10. Dimitri P. Changes in body composition following 3 years of pamidronate therapy in osteogenesis imperfecta [Text] / P. Dimitri, J. Crook, N. Bishop // Bone. — 2007. — Vol. 40. — P. 22–S89.
  11. Eff ff ects of cyclical intravenous pamidronate treatment [Text] / C. Land, F. Rauch, R. Travers, F. Glorieux // Bone. — 2007. — Vol. 40 — P. 638–644.
  12. Elazabi A. Spinal bone mineral density in children and adolescents treated with cyclical intravenous pamidronate [Text] / A. Elazabi, J.E. Adams, M.Z. Mughal // Bone. — 2009. — Vol. 45. — P. 104.
  13. Marini J.C. Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta [Text] / J.C. Marini, S. Bordenick, G. Heavner // Am J Med Genet. — 1993. — Vol. 45. — P. 261–264.
  14. Evaluation of the eff ff ects of disodium pamidronate on the serum lipid profi le in pediatric patients with severe Osteogenesis imperfecta [Text] / H.C. Menezes-Filho, V. Radonsky, G.P. Colares-Neto, H. Kuperman // Bone. — 2009. — Vol. 45. — P. 85.
  15. Sillence D.O. Genetic heterogeneity in osteogenesis imperfecta [Text] / D.O. Sillence, A. Senn, D.M. Danks // J. Med. Genet. — 1979. — Vol. 16. — P. 101–116.
  16. Falk M.J. Intravenous bisphosphonate therapy in children with osteogenesis imperfecta [Text] / M.J. Falk, S. Heeger, K.A. Lynch // Pediatrics. — 2003. — Vol. 111. — P. 573–578.
  17. Intravenous pamidronate treatment on children with moderate to severe Osteogenesis imperfecta started less than 36 month of age [Text] / M.B. Alcausin, J. Ault, V. Pacey et al. // Bone. — 2009. — Vol. 45. — P. 90.
  18. Labuda M. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3 [Text] / M. Labuda, J. Morissette, L.M. Ward // Bone. — 2002. — Vol. 31 (1). — P. 19–25. [Medline].
  19. Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta / F. Rauch, S. Cornibert, M. Cheung, F. Glorieux [Text] // Bone. — 2007. — Vol. 40. — P. 821–827.
  20. Marini J.C. Osteogenesis imperfecta: Rehabilitation and prospects for gene therapy [Text] / J.C. Marini, N.L. Gerber // JAMA. — 1997. — Vol. 277. — P. 746–750.
  21. Cheung M.S. Intravenous pamidronate in osteogenesis imperfecta type VII [Text] / M.S. Cheung, F.H. Gloireiux, F. Rauch // Calcifi ed tissue international. — 2009. [Medline].
  22. Normative data for iliac bone histomorphometry in growing children [Text] / F.H. Glorieux et al. // Bone. — 2000. — Vol. 26. — P. 103–109.
  23. Osteogenesis imperfecta — Clinical outcomes after 4-year experience with cyclical intravenous pamidronate therapy [Text] / L.S. Castro, C.C. Santos, M.I. Campos et al. // Bone. — 2009. — Vol. 45. — P. 59.
  24. Osteogenesis imperfecta type VI in childhood and adolescence [Text] / C. Land, F. Rauch, R. Travers, F. Glorieux // Bone. — 2007. — Vol. 40. — P. 638–644.
  25. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect [Text] / F.H. Glorieux et al. // J. Bone Miner. Res. — 2002. — Vol. 17. — P. 30–38.
  26. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease [Text] / L.M. Ward et al. // Bone. — 2002. — Vol. 31. — P. 12–18.
  27. Osteogenesis imperfecta, diagnosis information (clinical and genetic classifi cation) [Text] / G. Baujat, A.S. Lebre, V. Cormier-Daire, M. Le Merrer // Arch Pediatr. — 2008. — Vol. 15 (5). — P. 789–791.
  28. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age [Text] / H. Plotkin et al. // J. Clin. Endocrinol. Metab. — 2000. — Vol. 85. — P. 1846–1850.
  29. Ramachandran M. Osteogenesis Imperfecta [Text] / M. Ramachandran, D. Jones— 2008. [Medline] retrieved from http://emedicine.medscape.com/article/1256726-overview.
  30. Rauch F., Glorieux F.H. Osteogenesis imperfecta [Text] // Lancet. — 2004. — Vol. 363. — P. 1377–1385.
  31. Respiratory distress with pamidronate treatment in infants with severe osteogenesis imperfecta [Text] / F.C. Munns, F. Rauch, R.J. Mier, F.H. Glorieux // Bone. — 2004. — Vol. 35. — P. 231–234.
  32. Rowe D.W. Osteogenesis imperfecta [Text] / D.W. Rowe, J.R. Shapiro // Metabolic bone disease and clinically related disorders. — Academic Press Inc. San Diego, California, USA., 1998. — P. 651–695.
  33. Sexual dimorphism in vertebral fragility is more the result of gender diff ff erences in age related bone gain than bone loss [Text] / Y. Duan, C.H. Turner, B.T. Kim, I.J. Seeman // Bone Miner. Res. — 2001. — Vol. 16. — P. 2267–2275.
  34. Sillence D. Osteogenesis imperfecta: an expanding panorama of variants [Text] / D. Sillence // Clin Orthop. — 1981. — Р. 11–25. [Medline].
  35. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta [Text] / F. Rauch, R. Travers, A.M. Parfi tt, F.H. Glorieux // Bone. — 2000. — Vol. 26. — P. 581–589.
  36. Suff ff ering from osteogenesis imperfecta [Text] / J.P. Devogelaer, J. Malghem, B. Maldague, Nagant de Deuxchaisnes // Skel Radiol. — 1987. — Vol. 16. — P. 360–363.
  37. The eff ff ect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta Type V [Text] / L. Zeitlin, F. Rauch., R. Travers et al. // Bone. — 2006. — Vol. 38. — P. 13–20.
  38. The eff ff ects of intravenous pamidronate on bone tissue of children and adolescents with osteogenesis imperfecta [Text] / F. Rauch, R. Travers, H. Plotkin, F.H. Glorieux // J. Clin. Invest. — 2002. — Vol. 110. — P. 1293–1299.
  39. The eff ff ects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta [Text] / F. Rauch, R. Travers, H. Plotkin, F.H. Glorieux // J. Clin. Invest. — 2002. — Vol. 110. — P. 1293–1299.
  40. Transplantation of unrelated placental blood cells in children with high-risk sickle cell disease [Text] / T.V. Adamkiewicz, P.S. Mehta, M.W. Boyer et al. // Bone Marrow Transplant. — 2004. — Vol. 34 (5). — Р. 405.
  41. Type V osteogenesis imperfecta: a new form of brittle bone disease [Text] / F.H. Glorieux et al. // J. Bone Miner. Res. — 2000. — Vol. 15. — P. 1650–1658.
  42. Vertebral deformities in children with Osteogenesis Imperfecta: Eff ff ects of intravenous pamidronate and neridronate treatment [Text] / R. Beccarda, O. Semlera, C. Landb et al. // Bone. — 2009. — Vol. 45. — P. 59–S111.
  43. Vertebral morphometry in children and adolescents with osteogenesis imperfecta: Eff ff ect of intravenous pamidronate treatment [Text] / C. Land, F. Rauch, C.F. Munns et al. // Bone. — 2006. — Vol. 39. — P. 901–906.
  44. Ward L.M. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease [Text] / L.M. Ward, F. Rauch, R. Travers // Bone. —2002. — Vol. 31 (1). — P. 12–18. [Medline].

How to Cite

Povorozniuk, V., Grechanina, O., Balatska, N., & Vayda, V. (2009). Imperfect osteogenesis: pathogenesis, classification, clinical picture, treatment. ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS, (4), 110–117. https://doi.org/10.15674/0030-598720094110-117

Issue

Section

DIGESTS AND REVIEWS