Research Progress Of Osteogenesis Imperfecta

Osteogenesis imperfecta(OI)is a kind of hereditary connective tissue disease which is characterized by increased bone fragility and repeated fracture,also involving in eyes、ears and skin.It includes autosomal dominant and autosomal recessive inheritance.According to the clinical phenotype、genetic mode and pathogenic gene,it can be divided into 15 types,and the newly discovered pathogenic genes need to be furtherly defined.Majority of OI patients is autosomal dominant inheretance,mainly caused by I type collagen structure gene COL1A1,COL1A2 mutation.There are fewer patients with osteogenesis caused by autosomal recessive genetic mutations.However,there are many kinds of pathogenic genes,and the mechanism is complicated,mainly due to the abnormal of collagen translation,modification,assembly,and folding,transport.It is not difficult to establish an OI diagnosis through typical clinical features and brittle fracture.In order to prevent newborn children,prenatal gene diagnosis is extremely important.The treatment of OI requires the optimization of multiple disciplines.The severe ones can take actions to correct deformity and improve the negative gravity line.Combined drug treatment can reduce the pain and reduce the risk of fracture.Now the bisphosphonates play a dominant position in OI medication.PTH1-34、denosumab、anti-TGF β antibody and anti-sclerotic antibody drugs are expected to increase bone density,and improve bone microstructure,and reduce the risk of fractures.Gene therapy and stem cell transplantation are a new means of treatment.