IMPE Abstracts

Osteogenesis imperfecta (OI) is a genetic disease characterized by alterations in type I collagen, which determine a broad spectrum of clinical alterations. Although there is no specific treatment, drugs of the bisphosphonate class are used with the aim of improving bone quality with a reduction in fracture events and a gain in quality of life. In Brazil, current protocols use pamidronate, a second-generation bisphosphonate. The use of zoledronic acid, a third-generation bisph...

Bruck's Syndrome was first described in 1897 by Alfred Bruck, with an autosomal recessive inheritance, resulting from the FKBP10 mutation that courses with conditions of different severity. The prevalence is less than 1/1,000,000, with less than 40 cases described in the literature. This mutation generates a loss in the function of the FKBP65 protein, which generates effects such as a delay in the secretion of type 1 procollagen, and a decrease in the formation of intermo...