先天性胫骨假关节病理及发病机制的研究进展

Advances in the pathology and pathogenesis of congenital pseudarthrosis of the tibia

先天性胫骨假关节(congenital pseudarthrosis of the tibia,CPT)是由于发育异常所致的胫骨畸形,表现为胫骨成角畸形、囊肿或髓腔狭窄等,最终形成不能愈合的假关节。CPT是一种罕见的疾病,其发病率约占新生儿的1/140000~1/250000,主要特点是进行性胫骨和腓骨向前外侧弯曲、病理性骨折、进而发展成胫骨和/或腓骨假关节。该病常与1型神经纤维瘤病(neurofibromatosis type 1,NF_(1))有关,是小儿骨科最难治疗的疾病之一。CPT的病理及发病机制目前尚不完全清楚,存在多种热点研究方向,本文现就病理及发病机制这两方面的研究进展做一综述。

As a deformity of the tibia caused by abnormal development,congenital pseudarthrosis of the tibia(CPT)is characterized by angular deformity of the tibia,cyst or stenosis of medullary cavity and eventually a false non-healing joint.It is a rare disease with an incidence of approximately 1/140,000 to 1/250,000 among neonates.There are progressive anterolateral curvature of the tibia and fibula,pathological fractures and subsequent development of the tibia and/or fibula pseudarthrosis.Often associated with neurofibromatosis type 1(NF1),it is one of the most difficult pediatric orthopedic diseases to treat.Currently the pathology and pathogenesis of CPT are incompletely elucidated.With a large multitude of hot research directions,this review summarized recent advances of pathology and pathogenesis.