冷炎素相关周期热综合征

Cryopyrin-associated periodic syndromes

冷炎素相关周期热综合征(CAPS)也称为冷炎素病,包括3种疾病:家族性寒冷性自身炎症综合征(FCAS)、Muckle-Wells综合征(MWS)、新生儿多系统炎性疾病或慢性婴儿神经皮肤关节综合征(NOMID/CINCA)。为常染色体显性遗传病,基因位于染色体1q44的NLRP3,也称为CIAS1,编码细胞内NOD样受体(NLRs)家族成员之一的NALP3,即cryopyrin。其临床特征是反复发作的多系统炎症,主要表现为发热、关节痛及荨麻疹,可累及皮肤、肌肉、骨骼、关节、眼、耳以及中枢神经系统,3种亚型的病情从轻到重分别为FCAS、MWS和NOMID/CINCA;白细胞介素(IL)-1抑制剂可有效地控制病情进展,应尽早应用。

Cryopyrin-associated periodic syndromes （CAPS）, also known as cryopyrinopathy, includes three kinds of diseas- es ： familial cold autoinflammatory syndrome （FCAS）, Muckle- Wells syndrome （MWS） and neonatal onset muhisystem in- flammatory disease （NOMID）/chronic infantile neurological cutaneous and articular syndrome （CINCA）. CAPS are autoso- mal dominant disorders caused by mutations in the NLRP3 （NOD-like receptor 3, also named C1AS1 ）, located in chromo-somal position lq44 and encoding the cryopyrin protein. The clinical characteristics of CAPS are recurrent systemic inflam- mation, manifested with fever, arthralgia and urticaria, and may affect multiple systems and organs, such as skin, muscles, bones, joints, eyes, ears and central nervous system （CNS）. The severity of the 3 subtypes from mild to severe was FACS, MWS and NOMID/CINCA respectively. Interleukin （IL）-1 in- hibitor could effectively control the progress of the disease, and should be applied as soon as possible after definite diagno- sis.