[Osteogenesis imperfecta--etiology, characteristics, current and future treatment]

A congenital brittle bone disease, also named osteogenesis imperfecta (OI) is a genetic bone dysplasia with wide spectrum of clinical manifestations, from almost normal, through mild to severe phenotypes or even lethal. The most severe type of OI, type II, is characterized by significant bone deformations, resulting from frequent bone fractures occurring already in utero as well as after birth, due to bone fragility causing fractures even during regular newborn handling. Children with this type of OI die during first few weeks after birth due to poor circulatory/pulmonary conditions resulting from ribs and vertebral deformations. Currently, there is a lack of successful treatment and the therapy is restricted to applications of orthopedic equipment or administration of bisfosfonian, but both with limited success. The therapy of the future is cell therapy where the mesenchymal cells following transplantation undergo differentiation to bone marrow cells and take over the function of new and correct bone formation. In his review, both the current achievements as well as future perspectives are discussed.