Department of Otolaryngology, University of Pittsburgh School of Medicine, 203 Lothrop St. Suite 500, Pittsburgh, PA 15213, USA.
Department of Otolaryngology, University of Pittsburgh School of Medicine, 203 Lothrop St. Suite 500, Pittsburgh, PA 15213, USA.
Am J Otolaryngol. 2021 Nov-Dec;42(6):103067. doi: 10.1016/j.amjoto.2021.103067. Epub 2021 Apr 20.
Recent data have challenged the historical paradigm that cystic fibrosis (CF) protects against otitis media (OM). These findings raised questions about the pathogenesis of this ostensible change. In this study our aim is to characterize acute OM (AOM) risk based on CF genotype.
A retrospective chart review was completed at a tertiary care pediatric hospital. Charts of 159 CF patients seen at our facility from 2010 to 2019 were reviewed. Data collected included demographics, AOM infections, cystic fibrosis transmembrane conductance regulator (CFTR) allele mutations, pulmonary exacerbations (PE), and pancreatic insufficiency (PI) status. Mutation alleles were divided into five classes based on CF guidelines, which were further classified as severe (classes I-III) or mild (classes IV-V).
54% of patients had at least one episode of AOM with a mean of 1.5 episodes of AOM (standard deviation = 2.3). 86% of patients had severe/severe (S/S) alleles and 14% had severe/mild (S/M). S/S patients had significantly more PE (p = .004) and increased rates of PI (p < .001). Of the 131 patients with S/S mutations, 57% had an episode of AOM while only 46% the 22 S/M patients had an AOM episode (p = .357).
To our knowledge this is the first report showing a clinical trend towards increased middle ear disease in patients with severe CFTR mutations. Future prospective studies will be powered to demonstrate whether this trend is statistically significant. Patients with S/S mutations not only have more severe clinical phenotypes but may have additional unexpected complications such as middle ear disease.
最近的数据挑战了囊性纤维化（CF）保护中耳炎（OM）的历史范例。这些发现引发了对这种表面变化的发病机制的质疑。在这项研究中，我们的目的是根据 CF 基因型来描述急性 OM（AOM）的风险。
在一家三级儿科医院完成了回顾性图表审查。回顾了 2010 年至 2019 年在我们医院就诊的 159 名 CF 患者的病历。收集的数据包括人口统计学资料、AOM 感染、囊性纤维化跨膜电导调节因子（CFTR）等位基因突变、肺部恶化（PE）和胰腺功能不全（PI）状态。突变等位基因根据 CF 指南分为五类，进一步分为严重（I-III 类）或轻度（IV-V 类）。
54%的患者至少有一次 AOM 发作，平均有 1.5 次 AOM（标准差=2.3）。86%的患者有严重/严重（S/S）等位基因，14%有严重/轻度（S/M）。S/S 患者的 PE 明显更多（p=0.004），PI 发生率增加（p<0.001）。在 131 名具有 S/S 突变的患者中，57%发生了 AOM 发作，而只有 46%的 22 名 S/M 患者发生了 AOM 发作（p=0.357）。
据我们所知，这是第一项报告显示严重 CFTR 突变患者中耳疾病的临床趋势增加。未来的前瞻性研究将有足够的能力证明这种趋势是否具有统计学意义。具有 S/S 突变的患者不仅具有更严重的临床表型，而且可能还有其他意外并发症，如中耳疾病。
