Osteogenesis imperfecta and potential therapies. Review

Fabis, Mateusz, Remjasz, Klaudia, Kuchnicka, Julia, Siedlecki, Wojciech, Aleksandrowicz, Jakub, Wójcik, Bartłomiej, Zadrożna, Karolina. Osteogenesis imperfecta and potential therapies. Review. Journal of Education, Health and Sport. 2022;12(9):393-398. eISSN 2391-8306. DOI http://dx.doi.org/10.12775/JEHS.2022.12.09.044 https://apcz.umk.pl/JEHS/article/view/39632 https://zenodo.org/record/7041783 The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of December 21, 2021. No. 32343. Has a Journal's Unique Identifier: 201159. Scientific disciplines assigned: Physical Culture Sciences (Field of Medical sciences and health sciences); Health Sciences (Field of Medical Sciences and Health Sciences). Punkty Ministerialne z 2019 - aktualny rok 40 punktów. Załącznik do komunikatu Ministra Edukacji i Nauki z dnia 21 grudnia 2021 r. Lp. 32343. Posiada Unikatowy Identyfikator Czasopisma: 201159. Przypisane dyscypliny naukowe: Nauki o kulturze fizycznej (Dziedzina nauk medycznych i nauk o zdrowiu); Nauki o zdrowiu (Dziedzina nauk medycznych i nauk o zdrowiu). © The Authors 2022; This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike. (http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 15.08.2022. Revised: 20.08.2022. Accepted: 01.09.2022. Osteogenesis imperfecta and potential therapies Mateusz Fabis Wojewódzkie Wielospecjalistyczne Centrum Onkologii i Traumatologii im. M. Kopernika w Łodzi Klaudia Remjasz Absolwent Warszawskiego Uniwersytetu Medycznego https://orcid.org/0000-0002-0879-7515 Julia Kuchnicka Szpital Specjalistyczny w Brzezinach https://orcid.org/0000-0003-0409-5695 Wojciech Siedlecki 1 Wojskowy Szpital Kliniczny w Lublinie https://orcid.org/0000-0002-9917-5411 Jakub Aleksandrowicz Samodzielny Publiczny Szpital Kliniczny Nr 4 w Lublinie https://orcid.org/0000-0002-4534-9682 Bartłomiej Wójcik Uniwersytecki Szpital Kliniczny im. Wojskowej Akademii Medycznej - Centralny Szpital Weteranów https://orcid.org/0000-0002-6118-9199 Karolina Zadrożna Samodzielny Publiczny Szpital Kliniczny Nr 4 w Lublinie https://orcid.org/0000-0002-2374-6994 Abstract 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. Key words: Osteogenesis imperfecta, potential therapie