22q11.2缺失综合征儿童胆脂瘤患病率

IF 1.2 4区医学 Q3 OTORHINOLARYNGOLOGY

International journal of pediatric otorhinolaryngology Pub Date : 2025-04-05 DOI:10.1016/j.ijporl.2025.112332

Dovan Khalifee , Hannah J. Brown , Jill Arganbright , Elie Khalifee

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引用次数: 0

摘要

目的比较22q11.2缺失综合征（22q11.2 ds）患儿与非缺失患儿中耳胆脂瘤的患病率及相对危险度，探讨腭裂与中耳胆脂瘤发病的关系。方法采用TriNetX分析网络进行回顾性队列研究，该网络是一个联邦卫生研究网络，汇集了来自45个美国卫生保健组织的数据。包括年龄在18岁或以下的22q11.2DS患者和无22q11.2DS的患者（对照组）。报告每组诊断为中耳胆脂瘤或腭裂的患者。结果共纳入6883例22q11.2DS患儿和18678,712例无缺失患儿。22q11.2DS患儿中耳胆脂瘤患病率（0.872%）高于对照组（0.0573%），相对危险度为15.223 （95% CI: 11.824-19.598）。22q11.2DS合并腭裂患儿患胆脂瘤的相对危险度为39.034 （95% CI: 26.047-58.496）。即使没有腭裂，22q11.2DS患儿患胆脂瘤的相对风险仍然升高至11.038 （95% CI: 8.001-15.227）。结论：我们的研究表明22q11.2DS儿童的胆脂瘤患病率高于普通儿科人群。虽然腭裂增加了这些儿童患胆脂瘤的风险，但即使在没有腭裂的儿童中，这种风险也会持续升高。

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Prevalence of cholesteatoma in children with 22q11.2 deletion syndrome

Objective

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.

Methods

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.

Results

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).

Conclusion

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.

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来源期刊

International journal of pediatric otorhinolaryngology 医学-耳鼻喉科学

CiteScore

3.20

自引率

6.70%

发文量

276

审稿时长

62 days

期刊介绍： The purpose of the International Journal of Pediatric Otorhinolaryngology is to concentrate and disseminate information concerning prevention, cure and care of otorhinolaryngological disorders in infants and children due to developmental, degenerative, infectious, neoplastic, traumatic, social, psychiatric and economic causes. The Journal provides a medium for clinical and basic contributions in all of the areas of pediatric otorhinolaryngology. This includes medical and surgical otology, bronchoesophagology, laryngology, rhinology, diseases of the head and neck, and disorders of communication, including voice, speech and language disorders.