伴有血管炎的自身炎症性疾病

Autoinflammatory diseases accompanied by vasculitis

自身炎症性疾病是一组以固有免疫失衡、周期性发热以及反复炎症发作为特征的遗传性疾病。自身炎症性疾病中常见的皮疹表现有痤疮、坏疽性脓皮病、丹毒、荨麻疹、鱼鳞病、脓疱病等,而血管炎少见。本文对可伴有血管炎表现的自身炎症性疾病做一简要概述。其中,家族性地中海热主要以过敏性紫癜和结节性多动脉炎两种中等及小血管炎为主,Blau综合征以大血管炎更常见,腺苷脱氨酶2缺陷患者也可伴有中等大小及小动脉受累,临床上需和结节性多动脉炎相鉴别,干扰素刺激基因突变相关的婴幼儿血管病以皮肤小血管炎及血管病为主。

Autoinflammatory diseases are a group of inherited disorders characterized by dysregulation of the immune system,periodic fever and reccurrence of inflammation.The common rashes of autoinflammatory diseases include acne,pyoderma gangrenosum,erysipelas,urticaria,ichthyosis,pustulosis,while vasculitis is rare.This review summarizes autoinflammatory diseases accompanied by vasculitis.Familial Mediterranean fever mainly manifests as small-and medium-vessel vasculitis such as Henoch-Schonlein purpura and polyarteritis nodosa,while large-vessel vasculitis is common in Blau syndrome.Small-and medium-artery vasculitis can occur in patients with deficiency of adenosine deaminase 2 as well,so it should be differentiated from polyarteritis nodosa in clinical practice.Stimulator of interferon gene-associated vasculopathy with onset in infancy mainly presents as cutaneous small-vessel vasculitis and vasculopathy.