Rutishauser M
Universitäts-Kinderspital beider Basel.
Schweiz Med Wochenschr. 2000 May 13;130(19):705-10.
Primary ciliary dyskinesia is a recessively inherited group of disorders with abnormal ciliary activity leading to disturbed mucociliary clearance. Clinical manifestations as early as the first year of life are recurrent rhinitis, otitis media, sinusitis and lower respiratory tract infections. Another typical presentation is situs inversus. Biopsy of the ciliated mucosa in the nose or bronchi is required for study by vital microscopy and electronmicroscopy to confirm the diagnosis. Early diagnosis is important for initiation of rigorous treatment involving physiotherapy, inhalation with beta 2-mimetics and prompt antibiotic treatment to prevent irreversible damage such as bronchiectasis. Compared with cystic fibrosis the prognosis is better, because older children can compensate the absent mucociliary clearance with always-functioning cough clearance.
原发性纤毛运动障碍是一组隐性遗传疾病，纤毛活动异常导致黏液纤毛清除功能紊乱。早在出生第一年的临床表现为反复鼻炎、中耳炎、鼻窦炎和下呼吸道感染。另一个典型表现是内脏反位。需要对鼻或支气管的纤毛黏膜进行活检，通过活体显微镜检查和电子显微镜检查来确诊。早期诊断对于启动严格治疗很重要，治疗包括物理治疗、吸入β2激动剂以及及时使用抗生素治疗，以防止诸如支气管扩张等不可逆损害。与囊性纤维化相比，预后较好，因为大龄儿童可以通过始终有效的咳嗽清除来代偿缺失的黏液纤毛清除功能。
