关键词: 冷炎素相关周期热综合征, 家族性寒冷性自身炎症综合征, Muckle-Wells 综合征, 新生儿多系统炎性疾病或慢性婴儿神经皮肤关节综合征, 白细胞介素-1抑制剂

Abstract:

Cryopyrin-associated periodic syndromes（CAPS），also known as cryopyrinopathy，includes three kinds of diseases：familial cold autoinflammatory syndrome（FCAS），Muckle-Wells syndrome（MWS） and neonatal onset multisystem inflammatory disease（NOMID）/chronic infantile neurological cutaneous and articular syndrome（CINCA）. CAPS are autosomal dominant disorders caused by mutations in the NLRP3（NOD-like receptor 3，also named CIAS1），located in chromosomal position 1q44 and encoding the cryopyrin protein. The clinical characteristics of CAPS are recurrent systemic inflammation，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 inhibitor could effectively control the progress of the disease，and should be applied as soon as possible after definite diagnosis.

Key words: cryopyrin-associated periodic syndromes（CAPS）, familial cold autoinflammatory syndrome（FCAS）, Muckle-Wells syndrome（MWS）, neonatal onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular syndrome（NOMID/CINCA）, interleukin（IL）-1 inhibitor