Cryopyrin-Associated Periodic Syndromes: Otolaryngologic and Audiologic Manifestations
Cryopyrin-Associated Periodic Syndromes: Otolaryngologic and Audiologic Manifestations
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DOI：
10.1177/0194599811402296
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发表时间：
2011-08-01
影响因子：
3.4
通讯作者：
Kim, H. Jeffrey
中科院分区：
文献类型：
--
作者：
Ahmadi, Neda;Brewer, Carmen C.;Kim, H. Jeffrey
目的。冷吡啉相关周期性综合征（CAPS）是由CIAS1基因介导的一系列自身炎症性疾病，其特征为反复的全身性炎症。CAPS的临床症状轻重不一，包括历史上被描述为家族性寒冷自身炎症综合征（FCAS）、穆克 - 韦尔斯综合征（MWS）以及新生儿起病的多系统炎症性疾病（NOMID）等综合征。本文介绍了最大规模的CAPS患者队列。目的是描述CAPS的发病机制、耳鼻喉科及听力学表现。
研究设计。前瞻性（2003 - 2009年）。
研究地点。美国国立卫生研究院。
研究对象与方法。确定了57例被诊断为CAPS的患者（31例为NOMID，11例为NOMID/MWS，9例为MWS，6例为FCAS）。获取了有关临床表现、听力学表型以及脑和内耳的液体衰减反转恢复磁共振成像（FLAIR - MRI）的综合数据。
结果。对70%的耳朵获取的完整听力学数据显示，4只（11%）NOMID耳朵存在传导性听力损失，5只（13%）NOMID耳朵和2只（14%）NOMID/MWS耳朵存在混合性听力损失。感音神经性听力损失（SNHL）在高频更为严重，是最常见的听力损失类型，存在于23只（61%）NOMID耳朵、10只（71%）NOMID/MWS耳朵和4只（33%）MWS耳朵中。除2例外，所有FCAS患者听力正常，这2例在4 - 8 kHz存在SNHL。在FLAIR - MRI序列中，29例NOMID患者中有26例（90%）、11例NOMID/MWS患者中有6例（55%）、9例MWS患者中有3例（33%）以及6例FCAS患者中有1例（17%）出现耳蜗强化，且与听力损失的存在显著相关。在上颌窦发育不良和黏膜增厚分别在39%和86%的队列中被发现。
结论。CIAS1通路介导的CAPS与耳蜗中白细胞介素 - 1介导的不受调控的自身炎症和听力损失有关。及时诊断对于启动白细胞介素 - 1受体拮抗剂的早期治疗至关重要。
Objective. Cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of CIAS1 gene-mediated autoinflammatory diseases characterized by recurrent systemic inflammation. The clinical spectrum of CAPS varies from mild to severe and includes the syndromes historically described as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID). This article presents the largest cohort of patients with CAPS. The objective is to describe the pathogenesis, otolaryngologic, and audiologic manifestations of CAPS.Study Design. Prospective (2003-2009).Setting. National Institutes of Health.Subjects and Methods. Fifty-seven patients with a diagnosis of CAPS were identified (31 NOMID, 11 NOMID/MWS, 9 MWS, and 6 FCAS). Comprehensive data regarding clinical manifestations, audiologic phenotype, and fluid attenuation inversion recovery MRI (FLAIR-MRI) of the brain and inner ear were obtained.Results. Complete audiologic data obtained on 70% of ears revealed conductive hearing loss in 4 (11%) NOMID ears and mixed hearing loss in 5 (13%) NOMID and 2 (14%) NOMID/MWS ears. Sensorineural hearing loss (SNHL), worse in higher frequencies, was the most common type of hearing loss and was present in 23 (61%) NOMID, 10 (71%) NOMID/MWS, and 4 (33%) MWS ears. All of the patients with FCAS had normal hearing except 2, who had SNHL from 4 to 8 kHz. On FLAIR-MRI sequence, cochlear enhancement was noted in 26 of 29 (90%) NOMID, 6 of 11 (55%) NOMID/MWS, 3 of 9 (33%) MWS, and 1 of 6 (17%) FCAS patients and was significantly associated with the presence of hearing loss. Maxillary sinus hypoplasia and mucosal thickening were found in 39% and 86% of the cohort, respectively.Conclusion. CIAS1 pathway-mediated CAPS is associated with unregulated autoinflammation mediated by interleukin-1 in the cochlea and hearing loss. Timely diagnosis is crucial to initiate early treatment with interleukin-1 receptor antagonists.