Schrott-Fischer A, Rieger G, Morass B, Bitsche M, Horak E, Riechelmann H, Glückert R
Department für Hals-, Nasen- und Ohrenheilkunde und Hör-, Stimm- und Sprachstörungen, Universitätsklinik für Hals-Nasen-Ohrenheilkunde, Innsbruck.
Laryngorhinootologie. 2008 Nov;87(11):809-20; quiz 821-5. doi: 10.1055/s-2008-1077724. Epub 2008 Oct 29.
Primary ciliary dyskinesia (PCD) is an autosomal recessive inherited disease characterized by abnormal ciliary motion and impaired mucociliary clearance. The prevalence of PCD is approximately 1 : 15 000 - 1 : 20 000 in live births. Cilia dysfunction is also implicated in a wider spectrum of diseases due to impaired organ genesis and body symmetry. Cilia are highly conserved in animals and show complex structures containing more than 250 proteins for their formation. Recent studies have begun to locate the PCD genes in the genome and characterize functional mutations. Specific diagnosis of the ciliary dysfunction requires physiological measurements as well as light- and electron microscopy. Abnormalities in ciliary motion and ultrastructural studies can be performed with nasal mucosal epithelium.
原发性纤毛运动障碍（PCD）是一种常染色体隐性遗传病，其特征为纤毛运动异常和黏液纤毛清除功能受损。PCD在活产婴儿中的患病率约为1:15000至1:20000。由于器官发生和身体对称性受损，纤毛功能障碍还与更广泛的一系列疾病有关。纤毛在动物中高度保守，其形成需要复杂的结构，包含250多种蛋白质。最近的研究已开始在基因组中定位PCD基因，并对功能性突变进行特征分析。纤毛功能障碍的特异性诊断需要进行生理学测量以及光学显微镜和电子显微镜检查。可通过鼻黏膜上皮进行纤毛运动异常和超微结构研究。
