pubmed.ncbi.nlm.nih.gov

Current and emerging treatments for the management of osteogenesis imperfecta - PubMed

  • ️Fri Jan 01 2010

Current and emerging treatments for the management of osteogenesis imperfecta

Elena Monti et al. Ther Clin Risk Manag. 2010.

Abstract

Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder. Clinical severity varies widely; nowadays eight types are distinguished and two new forms have been recently described although not yet classified. The approach to such a variable and heterogeneous disease should be global and therefore multidisciplinary. For simplicity, the objectives of treatment can be reduced to three typical situations: the lethal perinatal form (type II), in which the problem is survival at birth; the severe and moderate forms (types III-IX), in which the objective is 'autonomy'; and the mild form (type I), in which the aim is to reach 'normal life'. Three types of treatment are available: non-surgical management (physical therapy, rehabilitation, bracing and splinting), surgical management (intramedullary rod positioning, spinal and basilar impression surgery) and medical-pharmacological management (drugs to increase the strength of bone and decrease the number of fractures as bisphosphonates or growth hormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approach are indicated and updated with the most recent findings in OI diagnosis and treatment.

Keywords: adult onset deafness; blue sclerae; bone brittleness; bone genetic disorder; connective tissue malfunction; dentinogenesis imperfecta; joint laxity; osteogenesis imperfecta; progressive skeletal deformities; short stature; “brittle bone disease”.

PubMed Disclaimer

Similar articles

Cited by

References

    1. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363:1377–1385. - PubMed
    1. Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord. 2008;9:153–160. - PubMed
    1. Marini JC, Cabral WA, Barnes AM. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res. 2010;339(1):59–70. - PMC - PubMed
    1. Rauch F, Lalic L, Roughley P, Glorieux FH. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 2009;9999(999A):1–30. - PubMed
    1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101–16. - PMC - PubMed