Osteogenesis imperfecta, current and future medical treatment
Osteogenesis imperfecta, current and future medical treatment
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DOI：
10.1002/ajmg.c.30072
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发表时间：
2005-11-15
影响因子：
3.1
通讯作者：
Glorieux, FH
中科院分区：
文献类型：
--
作者：
Rauch, F;Glorieux, FH
物理治疗、康复和矫形外科手术是治疗中重度成骨障碍（OI）的主要方法。尽管如此，使用双磷酸盐药物治疗可以带来显着的额外改善。好处包括减少疼痛，降低骨折发生率，更好的流动性。在各种双膦酸盐中，静脉注射帕米膦酸盐的研究最为详细。目前尚不清楚口服双膦酸盐是否与静脉注射帕米膦酸盐一样有效。由于双膦酸盐对骨骼的影响在生长期间最大，因此尽早开始OI患者的药物治疗似乎是合乎逻辑的。然而，目前尚不清楚儿童帕米磷酸钠治疗的最佳治疗方案和长期后果。考虑到这些不确定性，在生长期间使用双膦酸盐治疗应该保留给有重大临床问题的患者，如椎体压缩性骨折或长骨畸形。目前，除双膦酸盐以外的其他药物治疗，如生长激素和甲状旁腺激素，发挥的作用较小。基因治疗目前仍处于临床前研究的早期阶段。(c)2005 Wiley-Liss，Inc.
Physiotherapy, rehabilitation, and orthopedic surgery are the mainstay of treatment in moderate to severe forms of osteogenesis imperfecta (OI). Nevertheless, medical treatment with bisphosphonates can bring significant additional improvements. Benefits include decreased pain, lower fracture incidence, and better mobility. Among the various bisphosphonates, intravenous pamidronate has been studied in most detail. It is unclear whether oral bisphosphonates are as effective as intravenous pamidronate. As the effect of bisphosphonates on the skeleton is largest during growth, it appears logical to start medical therapy of OI patients as early as possible. However, the optimal treatment regimen and the long-term consequences of pamidronate treatment in children are currently unknown. Given these uncertainties, treatment with bisphosphonates during growth should be reserved for patients who have significant clinical problems, such as vertebral compression fractures or long bone deformities. Medical therapies other than bisphosphonates, such as growth hormone and parathyroid hormone, play a minor role at present. Gene-based therapy currently remains in the early stages of preclinical research. (c) 2005 Wiley-Liss, Inc.