核苷酸结合寡聚化领域相似受体家族-息肉病关联性自发性炎症性疾病（NLRP3-AID）是一种罕见的常染色体显性系统性炎症性疾病。本研究旨在总结患有听力损失的中国成年NLRP3-AID患者的表型和基因型特征。在2023年7月至2023年3月期间，我们在北京协和医院进行了一项回顾性队列研究，共纳入了21名患有NLRP3-AID的成年患者。所有患者均接受了全外显子测序和耳鼻喉学评估。收集和分析了临床特征和治疗数据。我们发现，21名患者中有13名（61.90%）患有听力损失，其中大多数患者表现为高频损伤，并且大多数患者以前不曾出现的面疼症状。早发性、由寒冷或应激引发的发作、红眼、疲劳、视力减退以及NLRP3蛋白的NACHT领域突变位点的NLRP3-AID患者更容易患有听力损失，特别是感音神经性听力损失，可能是由高穿透性致病变异的结果。通过一系列听觉评估，确认肿瘤坏死因子（TNF）-α抑制剂可以改善或逆转听力损失。我们报告了中国成年NLRP3-AID患者的首个队列，详细描述了前庭功能障碍，强调了对高频听力的关注，并提供了潜在的替代治疗方法。© 2023年作者。由牛津大学出版社代表英国风湿病学会发表。版权所有。如需许可，请发送电子邮件至journals.permissions@oup.com。

Nucleotide-binding oligomerization domain-like receptor family, pyrin domain containing 3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant systemic autoinflammatory disease. We aimed to summarize the phenotypic and genotypic features of Chinese adult NLRP3-AID patients with hearing loss.A retrospective cohort study of twenty-one adult patients with NLRP3-AID was conducted in Peking Union Medical College Hospital between July 2015 and March 2023. All patients underwent whole exome sequencing and otorhinolaryngologic assessments. Clinical features and therapeutic data were collected and analyzed.We found that 13/21 (61.90%) of patients had hearing loss with high-frequency impairment in the majority, and most patients presented with vestibular dysfunction as a new finding. The NLRP3-AID patients with early-onset, cold or stress triggered episodes, red eyes, fatigue, hypopsia and mutations located in the NACHT domain of the NLRP3 protein were more likely to suffer from hearing loss, especially sensorineural hearing loss, perhaps as a result of pathogenic variants of high penetrance. By a series of audiological evaluations, tumor necrosis factor (TNF)-α inhibitors were confirmed to improve or reverse hearing loss.We reported the first cohort of Chinese adult NLRP3-AID patients with hearing loss and characterized vestibular dysfunction, highlighted the necessity for attention to high-frequency hearing, and provided potential alternative treatment.© The Author(s) 2023. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.