Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate

• Published in: Bone (New York, N.Y.) Vol. 87; pp. 11 - 18
• Main Authors: Lindahl, K, Kindmark, A, Rubin, C.-J, Malmgren, B, Grigelioniene, G, Söderhäll, S, Ljunggren, Ö, Åström, E
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2016
• Subjects: Bisphosphonate; Body Height - drug effects; Bone Density - drug effects; Child; Child, Preschool; Collagen type I; Collagen Type I - genetics; Diphosphonates - pharmacology; Diphosphonates - therapeutic use; DNA Mutational Analysis; Female; Fracture; Fractures, Bone - complications; Fractures, Bone - drug therapy; Fractures, Bone - epidemiology; Fractures, Bone - physiopathology; Fractures, Compression - drug therapy; Fractures, Compression - genetics; Glycine - genetics; Humans; Lumbar Vertebrae - drug effects; Lumbar Vertebrae - physiopathology; Male; Medicin och hälsovetenskap; Mutation; Mutation - genetics; Orthopedics; Osteogenesis imperfecta; Osteogenesis Imperfecta - complications; Osteogenesis Imperfecta - drug therapy; Osteogenesis Imperfecta - genetics; Osteogenesis Imperfecta - physiopathology; Pharmacogenetics; Sweden - epidemiology; Osteogenesis imperfecta; Bisphosphonate; Pharmacogenetics; Fracture; Mutation; Collagen type I

Abstract Background Osteogenesis imperfecta (OI) is an inherited heterogeneous bone fragility disorder, usually caused by collagen I mutations. It is well established that bisphosphonate treatment increases lumbar spine (LS) bone mineral density (BMD), as well as improves vertebral geometry in sever...