The role of pamidronate in pediatric patients with severe osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a heritable bone disorder with clinical features that include bone fragility, blue sclerae, and short stature. There are four main subtypes of OI, encompassing a wide range of clinical severity. The majority of patients have mutations in either the COL1A1 or COL1A2 gene that ultimately lead to an abnormal synthesis of or a decrease in the production of collagen. Bisphosphonates have been used effectively in adults and children to treat other bone disorders, since they have been proven to increase bone density through inhibition of bone resorption. Recent studies have demonstrated the advantages of pamidronate therapy in the treatment of children and adolescents with the more severe forms of OI. Pamidronate consistently increases bone mass, vertebral growth, and quality-of-life while decreasing the number of fractures in children with severe OI. Long-term effects are promising, and benefits of pamidronate therapy appear to outweigh the possible risks.