University of Turku, Department of Cell Biology and Anatomy, Turku 20520, Finland.
Bone. 2012 Mar;50(3):798-803. doi: 10.1016/j.bone.2011.12.011. Epub 2011 Dec 27.
A total of 20 patients with neurofibromatosis 1 (NF1) were screened for NF1-related osteoporosis, and blood samples were collected for isolation of peripheral blood osteoclast progenitors. Patients with NF1 had higher levels of serum bone turnover markers (CTX and PINP) compared to controls. In addition, persons with high bone resorption in vitro on average had high levels of serum CTX. Of the 20 patients with NF1, 15 had low bone mineral density (osteopenia/osteoporosis), but these 15 patients did not have marked risk factors for low bone mineral density. Thus, we recommend screening for osteoporosis to all adult patients with NF1. Our aim was also to characterize the effects of bisphosphonates on NF1 osteoclasts in vitro. NF1 osteoclasts and osteoclasts from healthy controls in vitro were treated with zoledronic acid, alendronate and clodronate. These bisphosphonates caused a marked reduction in the number of normal control osteoclasts in vitro, while only a slight change was observed in the number of NF1 osteoclasts. Ras-inhibitor FTS counteracted this NF1-related insensitivity to zoledronic acid, suggesting that Ras may play a role in this phenomenon.
共对 20 例神经纤维瘤病 1 型（NF1）患者进行了 NF1 相关骨质疏松症筛查，并采集血样分离外周血破骨细胞前体细胞。与对照组相比，NF1 患者的血清骨转换标志物（CTX 和 PINP）水平更高。此外，体外骨吸收水平较高的患者通常血清 CTX 水平也较高。在 20 例 NF1 患者中，15 例存在低骨密度（骨质疏松/骨量减少），但这些 15 例患者并无明显低骨密度危险因素。因此，我们建议对所有 NF1 成年患者进行骨质疏松症筛查。我们的目的还在于体外研究双膦酸盐对 NF1 破骨细胞的作用。用唑来膦酸、阿仑膦酸钠和氯膦酸对 NF1 体外破骨细胞和健康对照组体外破骨细胞进行处理。这些双膦酸盐导致正常对照组体外破骨细胞数量明显减少，而 NF1 破骨细胞数量仅观察到轻微变化。Ras 抑制剂 FTS 拮抗了这种与 NF1 相关的对唑来膦酸不敏感，表明 Ras 可能在这种现象中发挥作用。
