Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.
Danish PCD Centre, Danish Paediatric Pulmonary Service, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6.
Motile cilia are highly complex hair-like organelles of epithelial cells lining the surface of various organ systems. Genetic mutations (usually with autosomal recessive inheritance) that impair ciliary beating cause a variety of motile ciliopathies, a heterogeneous group of rare disorders. The pathogenetic mechanisms, clinical symptoms and severity of the disease depend on the specific affected genes and the tissues in which they are expressed. Defects in the ependymal cilia can result in hydrocephalus, defects in the cilia in the fallopian tubes or in sperm flagella can cause female and male subfertility, respectively, and malfunctional motile monocilia of the left-right organizer during early embryonic development can lead to laterality defects such as situs inversus and heterotaxy. If mucociliary clearance in the respiratory epithelium is severely impaired, the disorder is referred to as primary ciliary dyskinesia, the most common motile ciliopathy. No single test can confirm a diagnosis of motile ciliopathy, which is based on a combination of tests including nasal nitric oxide measurement, transmission electron microscopy, immunofluorescence and genetic analyses, and high-speed video microscopy. With the exception of azithromycin, there is no evidence-based treatment for primary ciliary dyskinesia; therapies aim at relieving symptoms and reducing the effects of reduced ciliary motility.
纤毛是上皮细胞表面的高度复杂的毛发状细胞器，存在于各种器官系统的表面。导致纤毛运动障碍的遗传突变（通常为常染色体隐性遗传）可引起多种纤毛病，这是一组异质性罕见疾病。疾病的发病机制、临床症状和严重程度取决于特定的受影响基因及其表达的组织。脑室管膜纤毛的缺陷可导致脑积水，输卵管或精子鞭毛纤毛的缺陷可分别导致女性和男性的生育力低下，而早期胚胎发育中左右组织者的功能性运动单纤毛缺陷可导致左右侧缺陷，如 situs inversus 和异构性。如果呼吸道上皮的黏液纤毛清除功能严重受损，则该疾病被称为原发性纤毛运动障碍，这是最常见的纤毛病。没有单一的测试可以确诊纤毛病，其诊断基于包括鼻一氧化氮测量、透射电子显微镜、免疫荧光和基因分析以及高速视频显微镜在内的一系列测试的组合。除了阿奇霉素外，原发性纤毛运动障碍没有基于证据的治疗方法；治疗旨在缓解症状和减少纤毛运动减少的影响。
