成骨不全合并强直性脊柱炎2例并文献复习

Two cases of osteogenesis imperfecta complicated with ankylosing spondylitis and review of literature

迄今尚未有成骨不全(osteogenesis imperfecta,OI)合并强直性脊柱炎(ankylosing spondylitis,AS)的报道,该家系2例患者同时患有成骨不全和强直性脊柱炎,复习文献发现成骨不全和强直性脊柱炎在骨质改变方面均存在骨密度减低的特征性病变。近年来越来越多的研究表明经典Wnt信号通路在调节成骨细胞功能及骨形成中发挥重要的作用,并且其均参与成骨不全及强直性脊柱炎的发病过程。本文结合本病例特点,同时联系临床和文献报道,对Wnt信号通路在成骨不全及强直性脊柱炎发病过程中的可能作用进行讨论。

Hitherto no cases about osteogenesis imperfecta (OI) complicated with ankylosing spondylitis (AS) have been reported. In this article we present two patients diagnosed with OI and AS from one family. Both OI and AS are characterized by decreased bone mineral density (BMD). In recent years, more and more research has been revealing the key role of classic Wnt singal pathway in regulating osteoblasts function and bone formation. Reviewing literatures and features of these two cases, we will discuss about Wnt signal pathway in pathogenic development of OI and AS.