新生儿发病的多系统炎症性疾病的诊疗进展

Progress on diagnosis and treatment of neonatal-onset multisystem inflammatory disease

新生儿发病的多系统炎症性疾病(neonatal onset multisystem inflammatory disease, NOMID)又称慢性婴儿神经皮肤关节综合征(chronic infantile neurological cutaneous and articular, CINCA), 起源于围生期, 主要表现为荨麻疹、关节病变、中枢神经系统病变, 是由于染色体1q44的NLRP3基因发生突变导致的自身炎症性疾病。NOMID/CINCA主要依靠临床表现诊断, 但新生儿期症状不典型, 容易误诊及漏诊, 需与感染性疾病、家族性寒冷性自身炎症综合征、Muckle-Wells综合征、幼年特发性关节炎全身型、甲羟戊酸激酶缺乏症、肿瘤坏死因子受体相关性周期热综合征等疾病鉴别。对于临床表现不典型者, 基因检查可辅助诊断。治疗上常用IL-1靶向药物治疗, 包括Anakinra、Rilonacept和Canakinumab。该文对NOMID/CINCA的诊断及治疗进展进行综述。

Neonatal onset multisystem inflammatory disease(NOMID),also known as chronic infantile neurological cutaneous and articular syndrome(CINCA),originates from perinatal period and mainly manifests urticaria,joint lesions,and central nervous system lesions.It is an autoinflammatory disease associated with mutations of NLRP3 located on chromosome 1q44.The early atypical clinical symptoms are prone to misdiagnosis.NOMID/CINCA should be differentiated from infectious diseases,familial cold autoinflammatory syndrome,Muckle-Wells syndrome,systemic juvenile idiopathic arthritis,mevalonate-kinase deficiency,tumor necrosis factor receptor-associated periodic syndrome,and other diseases.NOMID/CINCA is mainly diagnosed based on clinical symptoms,while genetic testing provides an essential supplementary for patients with atypical clinical manifestations.IL-1 targeted therapies including anakinra,rilonacept,and canakinumab,have been proven with sustained efficacy in treating NOMID/CINCA.This article reviews the progress on diagnosis and treatment of NOMID/CINCA.