Farzal Zainab, Sullivan Kelli M, Zariwala Maimoona A, Thorp Brian D, Senior Brent A, Ebert Charles S, Davis Stephanie, Leigh Margaret W, Knowles Michael R, Kimple Adam J
Department of Otolaryngology-Head and Neck Surgery University of Texas Southwestern Medical Center Dallas Texas USA.
Marsico Lung Institute/Cystic Fibrosis Center University of North Carolina at Chapel Hill Chapel Hill North Carolina USA.
OTO Open. 2025 Jan 31;9(1):e70084. doi: 10.1002/oto2.70084. eCollection 2025 Jan-Mar.
Individuals with primary ciliary dyskinesia (PCD) frequently report olfactory dysfunction, yet this deficit is poorly documented. The purpose of this study was to characterize the presence and degree of olfactory dysfunction in PCD compared to controls and determine whether certain PCD genes are associated with worse olfaction.
A prospective cohort study.
Tertiary referral center.
We administered the University of Pennsylvania Smell Identification Test (UPSIT) to individuals with PCD. Participants were divided into 3 age groups (15-29 years, 30-44 years, and 45+ years) and compared to age- and sex-matched normal controls (n = 2170).
Twenty-nine individuals with PCD (8 males and 21 females) met the criteria (median age: 38 years; interquartile range: 22-47). Only 27.6% of patients with PCD had UPSIT scores within the normosmia range. The UPSIT median scores of each PCD age group were significantly lower than the median scores of the controls ( < .0001 for each age group). UPSIT scores generally worsened with age: mean 33 (mild hyposmia) for 15 to 29 years, 26.8 (moderate hyposmia) for 30 to 44 years, and 20.9 (severe hyposmia) for 45+ years. The most common genes coded were absent inner dynein arm/microtubule disorientation (IDA/MTD) defect (11/24, 45.8%), followed by absent outer dynein arm defect (8/24, 33.3%). The gene (IDA/MTD) was associated with worse olfactory dysfunction.
Individuals with PCD have a substantially higher prevalence and degree of olfactory dysfunction compared to age-matched controls. Our study is the first to report greater olfactory dysfunction with age in PCD patients, highlighting an important area for research.
原发性纤毛运动障碍（PCD）患者常报告嗅觉功能障碍，但这一缺陷记录较少。本研究的目的是描述PCD患者与对照组相比嗅觉功能障碍的存在情况和程度，并确定某些PCD基因是否与更严重的嗅觉减退有关。
前瞻性队列研究。
三级转诊中心。
我们对PCD患者进行了宾夕法尼亚大学嗅觉识别测试（UPSIT）。参与者分为3个年龄组（15 - 29岁、30 - 44岁和45岁以上），并与年龄和性别匹配的正常对照组（n = 2170）进行比较。
29例PCD患者（8例男性和21例女性）符合标准（中位年龄：38岁；四分位间距：22 - 47岁）。只有27.6%的PCD患者UPSIT评分在嗅觉正常范围内。每个PCD年龄组的UPSIT中位评分显著低于对照组的中位评分（每个年龄组P <.0001）。UPSIT评分通常随年龄增长而恶化：15至29岁平均为33分（轻度嗅觉减退），30至44岁为26.8分（中度嗅觉减退），45岁以上为20.9分（重度嗅觉减退）。编码的最常见基因是内动力蛋白臂/微管定向缺失（IDA/MTD）缺陷（11/24，45.8%），其次是外动力蛋白臂缺失缺陷（8/24，33.3%）。 基因（IDA/MTD）与更严重的嗅觉功能障碍有关。
与年龄匹配的对照组相比PCD患者嗅觉功能障碍的患病率和程度显著更高。我们的研究首次报告了PCD患者嗅觉功能障碍随年龄增长而加重，突出了一个重要的研究领域。
