OSTEOPETROSIS: CLINICAL AND PHYSIOOGICAL FEATURES

Abstract

Introduction. Osteopetrosis (Albers-Schonberg disease) is an inherited bone disease characterized by the occurrence of osteoclast dysfunction, this causes bone density to increase, making it dense, hard and brittle. Goal. This is an integrative review in order to answer the following research question: what factors lead the individual to develop osteopothesis. Methodology. The search was performed in the following databases and online libraries: Pubmed, Medline and SciELO. Results and discussion. Osteopetrosis is a disease caused by gene mutations, which manifests itself mainly in two classifications: of recessive (malignant) and dominant (benign) type, its main diagnostic methods are radiographic analysis and histopathological exams. In both disease classifications some biochemical and physiological characteristics are altered as bone matrix components, genes, hormones and cells in the blood tissue causing both abnormal proliferation and the malfunctioning of cell members responsible for bone maintenance. Conclusion. Since it is a condition that has serious health consequences, osteopetrosis is still little known in the medical and social spheres. Thus, it is of fundamental importance that there is greater dissemination of research on this disease so that there is an increasingly early diagnosis and, thus, minimize its consequences and to establish an increasingly concise and efficient treatment plan.