[评论] 一种治疗进行性骨化性纤维发育不良的新型有效方法
摘要
进行性骨化性纤维发育不良（FOP）是最具破坏性的肌肉骨骼疾病之一。FOP由ACVR1的激活变异引起，最常见的是新生突变，其特征为大脚趾先天性畸形，随后出现间歇性发作和软组织进行性异位骨化。1,2 病变可由轻微创伤、肌内注射或手术触发，但也可在没有明确诱因的情况下出现。随着时间推移，异位骨形成第二副骨骼，逐渐限制下颌、脊柱、髋部、肩部和胸部的活动。
English
Fibrodysplasia ossificans progressiva (FOP) is among the most devastating musculoskeletal disorders. FOP is caused by activating variants in ACVR1, most often arising de novo, and is characterised by congenital malformations of the great toes, followed by episodic flare-ups and progressive heterotopic ossification in soft tissues.1,2 Lesions can be triggered by minor trauma, intramuscular injections, or surgery, but can also arise without an identifiable trigger. Over time, heterotopic bone forms a second skeleton, progressively restricting movement of the jaw, spine, hips, shoulders, and thorax.