An overview of Osteogenesis imperfecta
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Abstract
Objective: To analyze the characteristics of Osteogenesis Imperfecta (OI). Bibliographic review: OI is a systemic connective tissue disorder characterized by low bone mass and bone fragility, causing significant morbidity due to pain, immobility, skeletal deformities, fractures and growth failure. Its incidence is 1 in 10,000 to 1 in 20,000 births and in Brazil there are about 12,000 people with the disease. The majority of OI (about 85-90% of cases) is associated with autosomal dominant hereditary pathogenic variants in the collagen type I genes. atypical. Final considerations: Osteogenesis imperfecta is a genetic disease of connective tissues caused by an abnormality in the synthesis or processing of type I collagen, also known as glass bones. This disease has a challenging management due to its wide genetic and phenotypic spectrum. Currently, the treatment options available for OI include prevention of bone fractures, symptom control, prevention and treatment of complications, especially respiratory ones, and increased bone mass.
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