Rauch Frank, Glorieux Francis H
Genetics Unit, Shriners Hospital for Children and McGill University, Montréal, Québecm Canada.
Ann Med. 2005;37(4):295-302. doi: 10.1080/07853890510007386.
Treatment with bisphosphonates has brought significant clinical improvements for children and adolescents suffering from moderate to severe forms of osteogenesis imperfecta (OI). 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. Nevertheless, the optimal treatment regimen and the long-term consequences of pamidronate treatment in children are currently unknown. Given these uncertainties, treatment with bisphosphonates should be reserved for patients who have significant clinical problems, such as vertebral compression fractures or long bone deformities. At present, bisphosphonate treatment has little justification in growing patients with mild forms of OI who have few or no clinical symptoms. Such patients should not be treated unless clear clinical benefit can be demonstrated in ongoing placebo-controlled trials.
双膦酸盐治疗已给患有中度至重度成骨不全症(OI)的儿童和青少年带来显著的临床改善。益处包括疼痛减轻、骨折发生率降低以及活动能力增强。在各种双膦酸盐中,静脉注射帕米膦酸盐的研究最为详尽。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作用在生长期间最为显著,因此尽早开始对OI患者进行药物治疗似乎是合理的。然而,目前尚不清楚儿童帕米膦酸盐治疗的最佳方案及其长期后果。鉴于这些不确定性,双膦酸盐治疗应仅用于有显著临床问题的患者,如椎体压缩骨折或长骨畸形。目前,对于患有轻度OI且几乎没有或没有临床症状的正在生长的患者,双膦酸盐治疗几乎没有依据。除非在正在进行的安慰剂对照试验中能证明有明确的临床益处,否则不应治疗这类患者。