Shriners Hospital for Children and McGill University, 1003 Boulevard Decarie, Montreal, Québec, H4A 0A9, Canada.
Osteoporos Int. 2017 Oct;28(10):2975-2983. doi: 10.1007/s00198-017-4141-x. Epub 2017 Jul 9.
This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies.
Osteogenesis imperfecta (OI) type VI is an ultra-rare bone fragility disorder caused by recessive mutations in SERPINF1. Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations.
This study includes a retrospective chart review of 13 individuals with OI type VI.
In the absence of therapy, lumbar spine areal bone mineral density (BMD) did not increase during childhood and longitudinal growth seemed to stall after the age of 6 to 8 years. The phenotype was similar between individuals with different types of SERPINF1 mutations. Intravenous bisphosphonate treatment was associated with an increase in lumbar spine areal BMD and some reshaping of compressed vertebral bodies. Patients who had started bisphosphonate treatment early (before the age of 6 years) were taller than patients who had received bisphosphonate treatment later during their growing years. Lower extremity fractures were frequent despite bisphosphonate treatment and scoliosis was present in all patients who had reached the final height. Most patients had restricted mobility. In four patients, intravenous bisphosphonate treatment was eventually substituted by subcutaneous injections of denosumab, without clear changes in the clinical picture.
Patients with OI type VI who received intravenous bisphosphonate treatment during growth had an increase in lumbar spine areal BMD, a higher final height z-score, and presented some reshaping of vertebral bodies. More effective treatment modalities are clearly required in OI type VI.
本研究回顾了 6 型成骨不全症的长期结果，发现接受静脉用双膦酸盐治疗的患者腰椎面积骨密度增加，最终身高 z 值更高，且椎体形状有所改善。
6 型成骨不全症（OI）是一种由 SERPINF1 隐性突变引起的罕见骨脆症。在此，我们描述了 6 型成骨不全症的长期结果，并比较了不同类型 SERPINF1 突变引起的临床表型。
本研究纳入了 13 例 6 型成骨不全症患者的回顾性图表分析。
在没有治疗的情况下，儿童时期腰椎面积骨密度（BMD）并未增加，且纵向生长似乎在 6 至 8 岁后停滞。不同类型 SERPINF1 突变引起的表型相似。静脉用双膦酸盐治疗与腰椎面积 BMD 增加及压缩椎体形状改善有关。早期（6 岁前）开始使用双膦酸盐治疗的患者比在生长期间后期接受双膦酸盐治疗的患者更高。尽管接受了双膦酸盐治疗，但下肢骨折仍很常见，所有达到最终身高的患者都存在脊柱侧凸。大多数患者活动受限。4 例患者最终改用皮下注射地舒单抗，而临床情况无明显变化。
生长期间接受静脉用双膦酸盐治疗的 6 型成骨不全症患者腰椎面积 BMD 增加，最终身高 z 值更高，且椎体形状有所改善。6 型成骨不全症显然需要更有效的治疗方法。
