Objective: To investigate the pathogenesis, clinical signs and diagnosing procedures of relapsing polychondritis(RP) in children with airway involvement. Methods: The medical history, clinical symptoms, physical examination, electronic laryngoscopy and imaging findings of six patients were retrospectively analyzed. The patients diagnosed as relapsing polychondritis with involving the airway from January 2018 to December 2021 were in our hospital. The clinical features of the 6 cases were summarized. Results: All 6 patients were male, ranging in age from 8 years 1 month to 14 years 1 month, with a median age of 12.04 years. Stridor and dyspnea were observed in all patients, with hoarseness in 2 patients and frequently nocturnal dyspnea during sleep in 2 patients. Initially, all children were diagnosed as laryngitis or laryngotracheitis, and were treated symptomatically with glucocorticoids and aerosol inhalation. Immunosuppressants and targeted therapy with biologics were given after patients diagnosed as RP. All patients were ultimately required tracheostomy. The time from the onset of airway symptoms to tracheostomy ranged from 1 month to 27 months. Two children had a history of endotracheal intubation prior to tracheostomy. All 6 patients underwent electronic laryngoscopy, revealing involvement of the laryngeal and subglottic mucosa and cartilage structures, which showed gradual improvement with medical therapy. Computed tomography (CT) of the trachea with three-dimensional reconstruction was performed in all patients, demonstrating moderate to severe subglottic stenosis. Two patients exhibited complete airway obstruction at the C4-C6 cervical level. Three children underwent suspension laryngoscopy under general anesthesia and endotracheal mucosal biopsy.Of the 6 children, 3 presented with nasal tip collapse or saddle nose, 2 had auricular cartilage changed, and 1 had scleralinvolvement. One patient underwent PET-CT scanning, which revealed tracheal collapse, diffuse increase in FDG(Flurodeoxyglucose)metabolism with increased FDG uptake in the nasal alar regions. All children were followed up for 2-3 years, 1 child died, while the remaining five continued to receive medical treatment. Conclusions: Relapsing polychondritis with airway involvement has an insidious onset and is difficult to diagnose. The airway stenosisresulting from RP is always severe and necessitating tracheotomy to maintain airway patency in the majority of cases.The treatment coursef or RP is prolonged, requiring long-term tracheostomy tube placement.
目的： 探讨以气道受累为主要表现的儿童复发性多软骨炎的临床特点。 方法： 回顾性分析自2018年1月至2021年12月就诊于首都医科大学附属北京儿童医院，以气道受累为主要表现的6例复发性多软骨炎患儿［所有患儿均为男性，年龄8岁1个月~14岁1个月（中位年龄12.04岁）］的病史、临床症状、体格检查、电子喉镜及影像学表现，并总结病例特点。 结果： 6例患儿主要症状均为喉鸣、呼吸困难，其中2例患儿合并声音嘶哑，2例患儿夜间睡眠时频繁憋醒。所有患儿出现气道症状初期均被诊断为喉炎或喉气管炎，确诊后予激素、免疫抑制剂及生物制剂靶向治疗，同时辅助雾化吸入等对症治疗。6例患儿全部行气管切开手术（其中外院手术2例，我院4例）。出现气道症状到气管切开的时间1个月~27个月不等。2例患儿在气管切开前有因呼吸困难行气管插管病史。6例患儿全部行电子喉镜检查，患儿喉部黏膜、声门下黏膜及软骨结构改变，随着患儿药物治疗，喉部及气管内黏膜肿胀情况可逐渐好转。6例患儿全部行气管CT及三维重建，均显示中、重度声门下狭窄，其中2例患儿颈椎4~6水平气道闭塞，软组织影填充，无明显含气。3例患儿曾行全身麻醉下支撑喉镜探查及气管内黏膜活检，支撑喉镜下内镜检查显示声门下黏膜弥漫性肿胀，声门下狭窄明显，不能显示骨性气管环结构，活检结果均为黏膜慢性炎症。6例患儿中3例同时合并鼻尖塌陷或鞍鼻，2例患儿耳廓软骨病变，1例患儿有巩膜改变。1例患儿行PET-CT显示气管塌陷，F脱氧葡萄糖（Flurodeoxyglucose，FDG）代谢弥漫性增高，双侧鼻翼FDG代谢增强。所有患儿随访2~3年，1例患儿死亡，余5例患儿均在持续药物治疗中。 结论： 以气道受累为主要表现的复发性多软骨炎起病隐匿，诊断困难。且以气道受累为主要表现的复发性多软骨炎狭窄程度较重，多伴有严重的呼吸困难，需行气管切开保障气道通畅。儿童期发病的复发性多软骨炎治疗周期长，需长期戴气切管。.