目标:正如NIH概述的那样,EhlersDanlos综合征(EDS)是一组以皮肤过度松弛为特征的遗传性结缔组织疾病,关节过度活动,萎缩性疤痕,血管脆弱,没有耳鼻喉科的诊断标准。我们旨在比较EDS儿童和未受EDS影响的儿童的耳鼻咽喉科疾病。
方法:使用TriNetX内的美国协作网络进行回顾性图表审查。EDS组由ICD-10代码G47.33定义,而非EDS组排除任何诊断为EDS的患者。队列按年龄匹配,性别,和种族使用倾向得分匹配。分析的病理包括听力损失(ICD-10H90,H91),中耳炎(ICD-10H66,H65),过敏性鼻炎,急性扁桃体炎(ICD-10J03),鼻窦炎(ICD-10J32,J01),阻塞性睡眠呼吸暂停(OSA)(ICD-10G47.33)。计算95%置信区间内的卡方和相对风险。
结果:倾向评分匹配产生6440例患者(男性:N=2,523,39.2%;女性:N=3,893,60.5%;未知:N=24,0.37%),平均年龄9.28岁(SD=4.38)。患有EDS的儿童被诊断为听力损失的可能性是其2.04倍,286例(4.4%)EDS儿童与140例(2.1%)对照发生(P<0.001)。患有EDS的儿童被诊断为过敏性鼻炎的可能性增加了1.6倍,436例(6.8%)EDS儿童与274例(4.2%)对照发生(P<0.001)。患有EDS的儿童也是1.52倍(EDS:N=350,5.4%;对照:N=231,3.6%)和4.24倍(EDS:N=335,5.2%;对照:N=79,1.2%)更可能发生鼻窦炎并被诊断为OSA,分别,与无EDS儿童相比(P<0.001)。然而,EDS患儿发生急性扁桃体炎的可能性仅为0.71倍,与101(1.6%)的EDS儿童相比,142(2.2%)的对照儿童被诊断(P=0.009)。发生中耳炎的风险没有统计学差异。
结论:患有EDS的儿童发生听力损失的风险更高,过敏性鼻炎,急性鼻窦炎,OSA,可能是由于潜在的免疫功能障碍。小儿耳鼻喉科医师应警惕EDS患者的这些耳鼻喉后遗症。
OBJECTIVE: As outlined by the NIH, Ehlers Danlos Syndrome (EDS) is a group of hereditary connective tissue disorders characterized by skin hyperelasticity, joint hypermobility, atrophic scarring, and blood vessel fragility, with no otolaryngological criteria for diagnosis. We aimed to compare otolaryngological disorders between children with EDS and those not affected by EDS.
METHODS: A retrospective chart review was conducted using the US collaborative network within TriNetX. The EDS group was defined by ICD-10 code G47.33, while the non-EDS group excluded any patients with an EDS diagnosis. Cohorts were matched by age, sex, and race using propensity score matching. Pathologies analyzed included hearing loss (ICD-10H90, H91), otitis media (ICD-10H66, H65), allergic rhinitis, acute tonsillitis (ICD-10 J03), sinusitis (ICD-10 J32, J01), and obstructive sleep apnea (OSA) (ICD-10 G47.33). Chi-square and relative risk within a 95 % confidence interval were calculated.
RESULTS: Propensity score matching yielded 6440 patients (male: N = 2,523, 39.2 %; female: N = 3,893, 60.5 %; unknown: N = 24, 0.37 %) with a mean age of 9.28 years (SD = 4.38). Children with EDS were 2.04 times more likely to be diagnosed with hearing loss, occurring in 286 (4.4 %) EDS children versus 140 (2.1 %) controls (P < 0.001). Children with EDS were 1.6 times more likely to be diagnosed with allergic rhinitis, occurring in 436 (6.8 %) EDS children versus 274 (4.2 %) controls (P < 0.001). Children with EDS were also 1.52 times (EDS: N = 350, 5.4 %; control: N = 231, 3.6 %) and 4.24 times (EDS: N = 335, 5.2 %; control: N = 79, 1.2 %) more likely to develop sinusitis and be diagnosed with OSA, respectively, compared to children without EDS (P < 0.001). However, children with EDS were only 0.71 times as likely to develop acute tonsillitis, with 101 (1.6 %) of EDS children compared to 142 (2.2 %) of control children being diagnosed (P = 0.009). No statistical difference was found in risk of developing otitis media.
CONCLUSIONS: Children with EDS are at higher risk of developing hearing loss, allergic rhinitis, acute sinusitis, and OSA, possibly due to underlying immune dysfunction. Pediatric otolaryngologists should be vigilant about these otolaryngologic sequela in EDS patients.