Brennan Steven K, Molter David, Menezes Maithilee, Dunsky Katherine, Leonard David, Lieu Judith, Hirose Keiko, Hazan Guy, Horani Amjad, Ferkol Thomas, Brody Steven L
Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8116 St Louis, MO 63110, USA.
Department of Otolaryngology-Head and Neck Surgery, Division of Pediatric Otolaryngology, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8115 St Louis, MO 63110, USA.
Int J Pediatr Otorhinolaryngol. 2021 Mar;142:110586. doi: 10.1016/j.ijporl.2020.110586. Epub 2020 Dec 31.
Primary ciliary dyskinesia (PCD) is a rare genetic disease arising from motile ciliary dysfunction and associated with recurrent and chronic upper and lower respiratory tract infections. Pediatric otolaryngologists may see these patients prior to the development of lung disease. Features of PCD may overlap with other suppurative respiratory diseases, creating diagnostic challenges. A simple screening tool would be beneficial to identify potential patients who have chronic upper respiratory tract disease requiring further specialist evaluation.
To test a simple screening tool consisting of four questions to detect PCD in children with chronic otitis media and chronic rhinosinusitis seen in a tertiary otolaryngology clinic.
A prospective, single site, observational study in a tertiary care pediatric otolaryngology clinic. Children aged 3-17 years diagnosed with chronic otitis media or rhinosinusitis with onset at less than 2 years of age were recruited. All study subjects had at least one of four key clinical features for PCD as determined by answers to screening questions, while control subjects had none. All participants completed a medical history questionnaire and nasal nitric oxide measurements. Those with reduced nasal nitric oxide levels were referred to our PCD center for further evaluation.
A total of 153 patients were screened and 62 subjects were enrolled. Of those, 35 were enrolled as study subjects and 27 as matched controls. Study subjects had mean age of 7.5 years (3.2-16.5) with pre-screening diagnosis of chronic otitis media (n = 29) or chronic rhinosinusitis (n = 6). Control subjects (n = 27) had mean age 7.2 years (3.0-16.3) with pre-screening diagnosis of chronic otitis media (n = 25), and chronic rhinosinusitis (n = 2). There were no differences in subject demographics or mean nasal nitric oxide values between the two groups (179.8 vs 210.8 nl/min). Ten individuals had low nasal nitric oxide values, 7 of which were normal on repeat testing. Three subjects failed to return for follow up evaluations. Four referrals were made for further evaluation on the basis of clinical symptoms and nasal nitric oxide results. While no new cases of PCD were detected, a subject and his sibling with recurrent sinopulmonary infections were referred for immunologic evaluation.
The use of standardized screening questions can be used in an otolaryngology clinic to identify patients who require further evaluation for PCD or primary immunodeficiency.
原发性纤毛运动障碍（PCD）是一种罕见的遗传性疾病，由运动性纤毛功能障碍引起，与反复慢性上、下呼吸道感染相关。儿科耳鼻喉科医生可能在肺部疾病发生之前就会诊治这些患者。PCD的特征可能与其他化脓性呼吸道疾病重叠，带来诊断挑战。一种简单的筛查工具将有助于识别患有慢性上呼吸道疾病、需要进一步专科评估的潜在患者。
测试一种由四个问题组成的简单筛查工具，以检测在三级耳鼻喉科诊所就诊的慢性中耳炎和慢性鼻窦炎患儿中的PCD。
在一家三级儿科耳鼻喉科诊所进行的前瞻性、单中心观察性研究。招募3至17岁、诊断为慢性中耳炎或鼻窦炎且发病年龄小于2岁的儿童。所有研究对象通过筛查问题的回答确定至少具有PCD的四项关键临床特征之一，而对照对象则无。所有参与者均完成病史问卷和鼻一氧化氮测量。鼻一氧化氮水平降低者被转至我们的PCD中心进行进一步评估。
共筛查153例患者，62例纳入研究。其中，35例作为研究对象，27例作为匹配对照。研究对象平均年龄7.5岁（3.2 - 16.5岁），筛查前诊断为慢性中耳炎（n = 29）或慢性鼻窦炎（n = 6）。对照对象（n = 27）平均年龄7.2岁（3.0 - 16.3岁），筛查前诊断为慢性中耳炎（n = 25）和慢性鼻窦炎（n = 2）。两组在受试者人口统计学或平均鼻一氧化氮值方面无差异（179.8 vs 210.8 nl/min）。10例个体鼻一氧化氮值较低，其中7例复查正常。3例受试者未返回进行随访评估。根据临床症状和鼻一氧化氮结果，4例被转介进行进一步评估。虽然未检测到新的PCD病例，但一名受试者及其患有反复鼻窦肺部感染的同胞被转介进行免疫评估。
标准化筛查问题可在耳鼻喉科诊所用于识别需要进一步评估PCD或原发性免疫缺陷的患者。
