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Osteogenesis imperfecta no adulto e resposta ao alendronato

Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue, due to a qualitative or quantitative abnormalities of type I collagen. Osteopenia, recurrent fractures and skeletal deformities are the hallmarks of the disease. Some patients also have blue sclera. Bisphosphonates appear to be an effective therapy in children but data on the efficacy of these drugs in adults with OI is limited. We describe a case of a thirty-year-old woman with OI and multiple fractures until puberty. During her first pregnancy bone pains relapsed, and worsened in the post-partum period. Bone markers suggested high bone turnover and the patient was started on alendronate 10mg per day. In a few months bone pain became less intense. Bone mass increased 10.8% at lumbar spine (LS) and 2.3% at femoral neck (FN) after one year, and 21.7% at LS and 10.9% at FN after three years of treatment. Our observations suggest that oral alendronate may be a good therapeutic option for adults with OI.

Osteogenesis imperfecta; Bone turnover; Collagen; Bone density; Treatment; Bisphosphonates


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