Khalifee Dovan, Brown Hannah J, Arganbright Jill, Khalifee Elie
Lebanese American University, School of Medicine, Byblos, Lebanon.
Kansas University Medical Center, Kansas City, KS, 66103, USA; Children's Mercy Hospital, Department of Otolaryngology, Kansas City, MO, 64108, USA.
Int J Pediatr Otorhinolaryngol. 2025 Jun;193:112332. doi: 10.1016/j.ijporl.2025.112332. Epub 2025 Apr 5.
To investigate the prevalence and relative risk of middle ear cholesteatoma in children with 22q11.2 deletion syndrome (22q11.2DS) as compared to children without the deletion, and to examine the relationship between cleft palate and cholesteatoma risk for these patients.
A retrospective cohort study was conducted using the TriNetX Analytics Network, a federated health research network that aggregates data from 45 U S. healthcare organizations. Patients who are 18 years old or younger with 22q11.2DS and without 22q11.2DS (control) were included. Patients in each group with a diagnosis of middle ear cholesteatoma or cleft palate were reported.
The study included 6883 children with 22q11.2DS and 18,678,712 children without the deletion. The prevalence of middle ear cholesteatoma was higher in children with 22q11.2DS (0.872 %) compared to controls (0.0573 %), representing a relative risk of 15.223 (95 % CI: 11.824-19.598). The relative risk of cholesteatoma in children with 22q11.2DS and cleft palate compared to controls was 39.034 (95 % CI: 26.047-58.496). Even without cleft palate, the relative risk of cholesteatoma in children with 22q11.2DS remained elevated at 11.038 (95 % CI: 8.001-15.227).
Our study demonstrates a higher prevalence of cholesteatoma in 22q11.2DS children compared to the general pediatric population. While cleft palate increases the risk of cholesteatoma in these children, the elevated risk persists even in those without cleft palate.
调查与无22q11.2缺失的儿童相比，22q11.2缺失综合征（22q11.2DS）患儿中耳胆脂瘤的患病率和相对风险，并研究这些患者腭裂与胆脂瘤风险之间的关系。
使用TriNetX分析网络进行一项回顾性队列研究，该网络是一个联合健康研究网络，汇总了美国45家医疗保健机构的数据。纳入18岁及以下患有22q11.2DS和未患有22q11.2DS（对照）的患者。报告了每组中诊断为中耳胆脂瘤或腭裂的患者。
该研究纳入了6883例患有22q11.2DS的儿童和18678712例无该缺失的儿童。与对照组（0.0573%）相比，22q11.2DS患儿中耳胆脂瘤的患病率更高（0.872%），相对风险为15.223（95%CI：11.824 - 19.598）。与对照组相比，患有22q11.2DS和腭裂的儿童胆脂瘤的相对风险为39.034（95%CI：26.047 - 58.496）。即使没有腭裂，22q11.2DS患儿胆脂瘤的相对风险仍高达11.038（95%CI：8.001 - 15.227）。
我们的研究表明，与普通儿科人群相比，22q11.2DS患儿胆脂瘤的患病率更高。虽然腭裂会增加这些儿童患胆脂瘤的风险，但即使在没有腭裂的儿童中，风险仍然升高。
