IGF1R expression in patients with osteogenesis Imperfecta under bisfosfonates treatment and in health children and adolescents

Abstract

Osteogenesis imperfecta (OI) is a genetic disease, characterized by changes in type I collagen, which determine a broad spectrum of clinical changes. Its occurrence in the population is from 1 to 10-20 thousand live births. Although there is no specific treatment, the medications of the class bisphosphonates are used with the aim of improving bone quality with reduction of fracture events and gain in quality of life. Current protocols use pamidronate, which is a first-generation medication. However, there are studies with the use of zoledronic acid (third generation bisphosphonate), showing safety and similar effects, and with the dosage advantage, reducing hospitalization time and spacing between medication administration cycles. There is no information regarding the expression of IGF1R in children with osteogenesis imperfecta and the impact of treatment with bisphosphonates on this expression. A prospective study will be carried out with a group of 24 patients with OI, who are being followed up at the Clinincs Hospital of Ribeirão Preto Medical School (FMRP) of the University of São Paulo (USP). The objectives of this work are: To evaluate the expression of IGF1R, by real time PCR method, in patients with OI using pamidronate, zoledronic acid and in healthy individuals according to pubertal staging; In patients with OI using bisphosphonates and healthy individuals according to their pubertal staging, evaluate serum concentrations of IGF-1, IGFBP-3 and RANK-1 expression; In the patients in whom we will replace pamidronate with zoledronic acid, we evaluated: RANK-L expression, serum IGF-1, IGFBP-3, and bone mass gain (bone densitometry). (AU)