Jones Joel W, Tracy Meghan, Perryman Mollie, Arganbright Jill M
1 Department of Otolaryngology-Head and Neck Surgery, University of Kansas School of Medicine, Kansas City, Kansas, USA.
2 Department of Otolaryngology, Children's Mercy Hospital, Kansas City, Missouri, USA.
Ann Otol Rhinol Laryngol. 2018 Jun;127(6):384-389. doi: 10.1177/0003489418771711. Epub 2018 May 7.
To characterize the frequency of airway anomalies in patients with 22q11.2 deletion syndrome (22q11DS).
Retrospective review of patients with 22q11DS who had undergone microlaryngoscopy/bronchoscopy (MLB) for aerodigestive symptoms at a tertiary care children's hospital from 2011 to 2016.
Thirty patients underwent an MLB due to the following indications: aspiration (11), stridor (10), chronic respiratory failure due to ventilator dependence (8), and difficult intubation (1). Median age at MLB was 6.5 months (range, 0.25-32 months). Forty airway anomalies were identified in 20 (66%) patients. Laryngomalacia (10), tracheomalacia (8), and bronchomalcia (8) were the most common intraoperative findings, followed by laryngeal cleft (5), anterior glottic web (5), subglottic stenosis (3), and subglottic cysts (1). Synchronous airway anomalies were common and identified in 11 (55%) of the patients who had identified anomalies on MLB. Nineteen of the 20 patients required operative intervention due to the anomalies identified.
Structural airway abnormalities are common in children with 22q11DS undergoing MLB, and synchronous anomalies can frequently exist. Providers caring for children with 22q11DS should be vigilant about airway evaluation when aerodigestive symptoms are present.
描述22q11.2缺失综合征（22q11DS）患者气道异常的发生频率。
回顾性分析2011年至2016年在一家三级儿童专科医院因气消化道症状接受显微喉镜/支气管镜检查（MLB）的22q11DS患者。
30例患者因以下指征接受了MLB检查：误吸（11例）、喘鸣（10例）、因呼吸机依赖导致的慢性呼吸衰竭（8例）和插管困难（1例）。MLB检查时的中位年龄为6.5个月（范围0.25 - 32个月）。在20例（66%）患者中发现了40处气道异常。喉软化（10处）、气管软化（8处）和支气管软化（8处）是最常见的术中发现，其次是喉裂（5处）、声门前连合襞（5处）、声门下狭窄（3处）和声门下囊肿（1处）。同步气道异常很常见，在MLB检查中发现有异常的患者中有11例（55%）存在。20例患者中有19例因发现的异常需要手术干预。
接受MLB检查的22q11DS儿童中结构性气道异常很常见，且常可同时存在多种异常。照顾22q11DS儿童的医护人员在出现气消化道症状时应警惕气道评估。
