自身炎症性骨病

Autoinflammatory bone diseases

自身炎症性骨病是一类以骨骼无菌性炎症为主要表型特征的自身炎症性疾病,多在儿童期起病,常伴有皮肤和肠道炎症。自身炎症性骨病是罕见病,治疗主要基于临床经验及病例系列研究。虽目前尚无标准治疗方案,但已有相当证据表明药物可通过干扰促炎途径发挥作用,包括使用非甾体抗炎药、皮质类固醇、改善病情的抗风湿药、双磷酸盐和生物制剂。近期研究还显示一些信号通路和分子缺陷参与疾病固有免疫活化和促炎性细胞因子表达,有望作为该病的生物标志物和未来治疗靶点。

Autoinflammatory bone disease is a type of autoinflammatory disease with sterile bone inflammation as the cardinal feature,most of which affect children.A significant proportion of individuals affected also have a chronic inflammatory condition of the skin or intestinal tract.This disease is a rare disorder,and treatment is largely empiric and based on small case series.Although no standard protocol is yet specifically indicated in the treatment,there exists considerable evidence for agents exerting their effects via interference with these pro-inflammatory pathways,including the use of non-steroidal anti-inflammatory drugs,corticosteroids,disease-modifying antirheumatic drugs,bisphosphonates,and biologics.Recent advances suggest signaling pathways and variable molecular defects appear to be involved in innate immune activation and pro-inflammatory cytokine expression in the disease,which promise future success in determining biomarkers and therapeutic targets.