Barlocco E G, Valletta E A, Canciani M, Lungarella G, Gardi C, De Santi M M, Mastella G
Cystic Fibrosis and Pediatric Pulmonology Center, Verona, Italy.
Pediatr Pulmonol. 1991;10(1):11-7. doi: 10.1002/ppul.1950100104.
One hundred fifty-four children with recurrent or chronic infections of the lower respiratory tract compatible with the diagnosis of primary ciliary dyskinesia (PCD) were evaluated for the presence of ultrastructural ciliary abnormalities. Studies were performed on multiple samples of respiratory mucosa obtained by nasal and bronchial brushing. Twenty-eight children showed ultrastructural ciliary defects compatible with the diagnosis of PCD: Twenty-four presented dynein arm deficiency (either as isolated defect or in association with microtubular abnormalities), two had ciliary aplasia, and two showed microtubular abnormalities. Eleven patients with PCD had situs viscerum inversus, bronchiectasis, and chronic sinusitis (Kartagener's syndrome); one child with Kartagener's syndrome had normal ciliary structure. The appearance of respiratory symptoms within the first month of life, the colonization by Haemophilus influenzae, and a history of recurrent rhinitis and otitis were characteristically present in children with PCD. The clinical status of those patients who reached adolescence was, in our experience, remarkably good. An early diagnosis with adequate prevention and therapy of respiratory infections may have an important role in minimizing irreversible lung damage.
对154名患有与原发性纤毛运动障碍（PCD）诊断相符的复发性或慢性下呼吸道感染的儿童进行了超微结构纤毛异常情况的评估。对通过鼻刷和支气管刷获取的多个呼吸道黏膜样本进行了研究。28名儿童显示出与PCD诊断相符的超微结构纤毛缺陷：24名表现为动力蛋白臂缺陷（要么是孤立缺陷，要么与微管异常相关），2名有纤毛发育不全，2名显示微管异常。11名PCD患者患有内脏反位、支气管扩张和慢性鼻窦炎（卡塔格内综合征）；1名患有卡塔格内综合征的儿童纤毛结构正常。PCD患儿的典型特征是在出生后第一个月内出现呼吸道症状、被流感嗜血杆菌定植以及有复发性鼻炎和中耳炎病史。根据我们的经验，那些进入青春期的患者的临床状况非常良好。早期诊断并对呼吸道感染进行充分的预防和治疗可能在最大程度减少不可逆的肺损伤方面发挥重要作用。
