Takeuchi Kazuhiko, Kitano Masako, Sakaida Hiroshi, Usui Satoko, Masuda Sawako, Ogawa Satoru, Ikejiri Makoto, Nagao Mizuho, Fujisawa Takao, Nakatani Kaname
*Department of Otorhinolaryngology, Head and Neck Surgery, Mie University Graduate School of Medicine †Department of Otorhinolaryngology, Mie National Hospital ‡Electron Microscopy Research Center §Central Clinical Laboratories, Mie University Graduate School of Medicine ||Institute for Clinical Research, Mie National Hospital ¶Division of Personalized Medicine, Mie University Graduate School of Medicine, Tsu, Mie, Japan.
Otol Neurotol. 2017 Dec;38(10):e451-e456. doi: 10.1097/MAO.0000000000001599.
To evaluate otologic features of primary ciliary dyskinesia (PCD), especially eardrum features, audiometric findings, and clinical course.
Retrospective patient review.
Tertiary referral center.
Fifteen patients (mean age, 16.9 years [range, 1-32 yr]; 8 males and 7 females) diagnosed with PCD at our university hospital in the last 12 years.
Diagnostic.
Electron microscopy of nasal cilia, gene mutation analysis, endoscopy of 30 eardrums, pure-tone audiometry, and tympanometry.
All 15 patients showed ciliary ultrastructural abnormalities on electron microscopy and/or biallelic mutations in genes associated with ciliary function or structure. All 30 eardrums examined showed certain abnormalities. Fourteen patients had otitis media with effusion or its sequelae. The remaining patient had chronic otitis media. Pure-tone audiometry revealed the mean air conduction thresholds to be 25.0 and 26.4 dB in the right and left ears, respectively. In the ears with better hearing and worse hearing, the mean air conduction thresholds were 22.3 and 29.0 dB respectively.
Otologic disease among patients with PCD essentially comprised otitis media with effusion, and the patients' eardrums showed a variety of findings. Knowledge of these otologic features may lead to the early detection of PCD.
评估原发性纤毛运动障碍（PCD）的耳科特征，尤其是鼓膜特征、听力测定结果和临床病程。
回顾性患者评估。
三级转诊中心。
过去12年在我校医院诊断为PCD的15例患者（平均年龄16.9岁[范围1 - 32岁]；8例男性和7例女性）。
诊断性。
鼻纤毛电子显微镜检查、基因突变分析、30个鼓膜的内镜检查、纯音听力测定和鼓室图。
所有15例患者在电子显微镜检查中均显示纤毛超微结构异常和/或与纤毛功能或结构相关基因的双等位基因突变。所有检查的30个鼓膜均显示一定异常。14例患者有中耳积液或其后遗症。其余患者患有慢性中耳炎。纯音听力测定显示右耳和左耳的平均气导阈值分别为25.0和26.4 dB。在听力较好和较差的耳中，平均气导阈值分别为22.3和29.0 dB。
PCD患者的耳科疾病主要包括中耳积液，患者的鼓膜表现出多种异常。了解这些耳科特征可能有助于早期发现PCD。
