Osteogenesis imperfecta and potential therapies
DOI:
https://doi.org/10.12775/JEHS.2022.12.09.044Keywords
Osteogenesis imperfecta, potential therapiesAbstract
Background: Osteogenesis imperfecta (OI) is a genetically determined disorder of connective tissue. In this article we reviewed epidemiology, types of OI, pathophysiology, symptoms and potential therapies.
Material and methods: This paper was based on medical articles collected in PubMed from 2006 to 2022, medical websites and books. The research has been done by looking through key words such as: „osteogenesis imperfecta”, „osteogenesis imperfecta treatment”, „bisphosphonate”, „sillence classification”.
Results: The pathophysiology of osteogenesis imperfecta is well understood. Treatment and symptoms of the disease depend on the type of osteogenesis imperfecta.
Conclusions: Treatment of the patients with OI is challenging for health care professionals. Medical care for majority of patients with OI extends their life and improves its quality. Despite advances in science, causal treatment still does not exist.
References
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T. Current Overview of Osteogenesis Imperfecta. Medicina (Kaunas). 2021 May 10;57(5):464. doi: 10.3390/medicina57050464. PMID: 34068551; PMCID: PMC8151368.
Bregou Bourgeois A, Aubry-Rozier B, Bonafé L, Laurent-Applegate L, Pioletti DP, Zambelli PY. Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives. Swiss Med Wkly. 2016 Jun 20;146:w14322. doi: 10.4414/smw.2016.14322. PMID: 27346233.
Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101-16. doi: 10.1136/jmg.16.2.101. PMID: 458828; PMCID: PMC1012733.
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O. Osteogenesis imperfecta. Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. PMID: 28820180.
Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Erratum in: Am J Med Genet A. 2015 May;167A(5):1178. PMID: 24715559; PMCID: PMC4314691.
Esposito, P. W. in Osteogenesis Imperfecta in Operative Techniques in Pediatric Orthopaedics (eds Flynn J. M. & Wiesel, S. W.) 259–269 Philadelphia Lippincott Williams and Wilkins, 2011.
Enright WJ, Noonan KJ. Bone plating in patients with type III osteogenesis imperfecta: results and complications. Iowa Orthop J. 2006;26:37-40. PMID: 16789446; PMCID: PMC1888596.
Van Brussel M, Takken T, Uiterwaal CS, Pruijs HJ, Van der Net J, Helders PJ, Engelbert RH. Physical training in children with osteogenesis imperfecta. J Pediatr. 2008 Jan;152(1):111-6, 116.e1. doi: 10.1016/j.jpeds.2007.06.029. Epub 2007 Oct 24. PMID: 18154911.
McAllion SJ, Paterson CR. Causes of death in osteogenesis imperfecta. J Clin Pathol. 1996 Aug;49(8):627-30. doi: 10.1136/jcp.49.8.627. PMID: 8881910; PMCID: PMC500603.
de Vlaming A, Sauls K, Hajdu Z, Visconti RP, Mehesz AN, Levine RA, Slaugenhaupt SA, Hagège A, Chester AH, Markwald RR, Norris RA. Atrioventricular valve development: new perspectives on an old theme. Differentiation. 2012 Jul;84(1):103-16. doi: 10.1016/j.diff.2012.04.001. Epub 2012 May 11. PMID: 22579502; PMCID: PMC3389153.
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Copyright (c) 2022 Mateusz Fabis, Klaudia Remjasz, Julia Kuchnicka, Wojciech Siedlecki, Jakub Aleksandrowicz, Bartłomiej Wójcik, Karolina Zadrożna
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