【摘 要】
：
目的：探索Ⅰ型神经纤维瘤病(Neurofibromatosis type Ⅰ,NFI)患者的骨密度(bone mineral density, BMD)改变及营养不良性脊柱侧凸(dystrophic scoliosis)与神经纤维瘤体之间的关系.方法：NF1患者共17例,年龄10～18岁,平均14.47岁,其中伴营养不良性颈椎后凸者1例,后凸Cobb角85°；伴营养不良性脊柱侧凸患者16例,Cob
【机 构】
：
南京大学医学院附属鼓楼医院脊柱外科
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目的：探索Ⅰ型神经纤维瘤病(Neurofibromatosis type Ⅰ,NFI)患者的骨密度(bone mineral density, BMD)改变及营养不良性脊柱侧凸(dystrophic scoliosis)与神经纤维瘤体之间的关系.方法：NF1患者共17例,年龄10～18岁,平均14.47岁,其中伴营养不良性颈椎后凸者1例,后凸Cobb角85°；伴营养不良性脊柱侧凸患者16例,Cobb角40～122°(平均71.94°).接受后路脊柱手术的非脊柱畸形患者(对照组)12例,年龄10～19岁,平均16.17岁.术前所有对象均行双能X线吸收仪测量非优势侧的股骨近端和腰椎(L2～L4)的骨密度(bone mineral density, BMD).NFI患者实施单纯后路或前后路联合脊柱侧凸矫形融合术(其中颈椎后凸实施后路矫形者1例)时取得6例神经纤维瘤体(A组)及17例棘上韧带(B组), 12例棘上韧带取自对照组(C组).体外组织块贴壁法分离培养成纤维细胞(fibroblasts,FB),差数贴壁法纯化FB细胞,并通过免疫细胞化学成纤维细胞特异蛋白-1和波形蛋白染色对FB细胞进行鉴定.选取P3代细胞作为种子细胞,采用Real-time PCR方法检测A、B、C三组FB细胞中TGF-β,bFGF, IGF-1及PDGF-bb的mRNA表达水平.结果：NF1伴营养不良性脊柱侧凸患者与对照组患者年龄、性别比例无明显差异(p＞0.05)；前者所测各部位的BMD均显著低于对照组(p＜0.05).A、B、C三组FB细胞的TGF-β,bFGF,IGF-1及PDGF-bb表达水平均无统计学差异(p＞0.05).结论：NFI伴营养不良性脊柱侧凸患者全身骨量显著降低； 神经纤维瘤可能不通过FB细胞分泌TGF-β,bFGF, IGF-1及PDGF-bb等影响低骨量及营养不良性脊柱侧凸的发生.
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