Hedrich C M, Fiebig B, Sallmann S, Bruck N, Hahn G, Roesler J, Roesen-Wolff A, Heubner G, Gahr M
Department of Paediatric Rheumatology and Immunology, University Children's Hospital Dresden, 01307 Dresden, Germany.
Scand J Rheumatol. 2008 Sep-Oct;37(5):385-9. doi: 10.1080/03009740801978889.
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is an autoinflammatory disease, defined by the triad of urticarial rash, neurological manifestations, and arthropathy, accompanied by recurrent fevers and systemic inflammation. Increasing neurological deficits result from aseptic meningitis. Sensorineural hearing loss and progressive loss of vision caused by keratoconjunctivitis or papilloedema may emerge. An autosomal-dominant inheritance is suspected although sporadic cases are reported frequently. Sixty per cent of CINCA patients carry mutations in the cold-induced autoinflammatory syndrome (CIAS1) gene. We report the favourable response of a 23-year-old CINCA patient without CIAS1 mutations to treatment with the recombinant interleukin-1 (IL-1) receptor antagonist anakinra.
慢性婴儿神经皮肤关节综合征（CINCA）是一种自身炎症性疾病，其特征为荨麻疹样皮疹、神经表现和关节病三联征，并伴有反复发热和全身炎症。无菌性脑膜炎会导致神经功能缺损不断加重。可能会出现感觉神经性听力丧失以及由角结膜炎或视乳头水肿引起的视力进行性丧失。尽管经常有散发病例的报道，但怀疑其为常染色体显性遗传。60%的CINCA患者在冷诱导自身炎症综合征（CIAS1）基因中存在突变。我们报告了一名23岁无CIAS1突变的CINCA患者对重组白细胞介素-1（IL-1）受体拮抗剂阿那白滞素治疗的良好反应。
