Cheung Moira S, Glorieux Francis H, Rauch Frank
Genetics Unit, Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.
Calcif Tissue Int. 2009 Mar;84(3):203-9. doi: 10.1007/s00223-008-9211-9. Epub 2009 Jan 10.
Cyclical intravenous treatment with pamidronate is widely used to treat osteogenesis imperfecta (OI) types I, III, and IV, which are due to dominant mutations affecting collagen type I alpha chains. There is no information about the effects of pamidronate in children with OI type VII, an autosomal-recessive form of OI caused by a mutation in the cartilage-associated protein gene. In this retrospective single-center study, we compared the effects of pamidronate in four girls with OI type VII (age range 3.9-12.7 years) to those in eight girls with OI types caused by collagen type I mutations who were matched for age and disease severity. During 3 years of pamidronate therapy, lumbar spine areal bone mineral density increased and lumbar vertebral bodies improved in shape in patients with OI type VII. Other outcomes such as fracture rates and mobility scores did not show statistically significant changes in this small study cohort. There were no significant side effects noted during the time of follow-up. Thus, intravenous treatment with pamidronate seems to be safe and of some benefit in patients with OI type VII.
帕米膦酸盐的周期性静脉治疗被广泛用于治疗Ⅰ型、Ⅲ型和Ⅳ型成骨不全症（OI），这些类型是由影响Ⅰ型胶原蛋白α链的显性突变引起的。目前尚无关于帕米膦酸盐对Ⅶ型OI患儿影响的信息，Ⅶ型OI是一种常染色体隐性形式的OI，由软骨相关蛋白基因突变引起。在这项回顾性单中心研究中，我们比较了帕米膦酸盐对4名Ⅶ型OI女童（年龄范围3.9 - 12.7岁）的影响与对8名因Ⅰ型胶原蛋白突变导致OI的女童的影响，这8名女童在年龄和疾病严重程度上与之匹配。在3年的帕米膦酸盐治疗期间，Ⅶ型OI患者的腰椎骨面积密度增加，腰椎椎体形状改善。在这个小研究队列中，其他结果如骨折率和活动评分没有显示出统计学上的显著变化。随访期间未发现明显副作用。因此，帕米膦酸盐静脉治疗对Ⅶ型OI患者似乎是安全且有一定益处的。
