Osteogênese imperfeita: novas tecnologias na prevenção de fraturas – uma revisão de literatura.

Abstract

This research aims to identify new technologies in the literature: surgical / drug treatment to prevent fractures in individuals affected by osteogenesis imperfecta. To do so, the following objectives were outlined: to analyze the biochemical aspects of OI, in line with the differential diagnosis and diagnosis of the pathology; to identify, in the national literature, the perspectives of the use of gene therapy and cell therapy, regarding the advances and incorporation in public services in the Unified Health System (SUS) and private health, investigating the barriers / limitations; and to discuss what has already been described in the international literature about those that involve future perspectives of gene therapy and cell therapy. There is a discussion in the literature about OI in relation to what currently exists for the prevention of fractures, as well as showing which drugs, orthoses and surgical techniques that can be used, emphasizing the importance of discussing the use of new technologies used in this prevention and treatment of fractures, possibility of using gene and stem cell therapy in OI therapy. Seeking to answer the question of how much to prevent fractures in imperfect osteogenesis, what has been indicated in the national and international literature, which drug treatments are used today? Use of orthoses, surgical treatments and use of intramedullary nails have been used to prevent fractures and if gene therapy and cell therapy are options for the future, the methodology adopted was the systematic review of literature, using the database of the Library Virtual Health (VHL), PubMed and Cochrane Library, for collection between July and September 2020, with studies from the last ten years, along with 359 articles published in Portuguese, English, French and Spanish. 227 articles were duplicated, 45 were rejected, 87 were accepted. Of these, after reading the full text, 26 were included for systematic research. It is an exploratory, descriptive and explanatory research, of a qualitative nature. The results obtained led to the conclusion that the analyzed authors mentioned that the diagnosis can still occur in utero with complementary exams. The clinical picture of OI is characterized by elasticity with capsule-ligament laxity, bone fragility, increased bleeding tendency, triangular facies, skin changes, inguinal hernia, late birth defects, mental retardation, bluish sclera color, deafness, among others, it is necessary to understand the type of skeletal deformities in order to proceed with the most appropriate treatment. They unanimously concluded that even though the use of bisphosphonate-based medications is routine in the treatment of OI, other potential treatment modalities may include gene therapy or mesenchymal cell transplantation, where there is unanimity by the analyzed authors that therapy surgeries are shown as a treatment possibility that focuses not only on symptomatic control, but on effective treatment of pathology.