Cilia, hair-like structures extending from the cell membrane, perform diverse biological functions. Primary (genetic) defects in the structure and function of sensory and motile cilia result in multiple ciliopathies. The most prominent genetic abnormality involving motile cilia (and the respiratory tract) is primary ciliary dyskinesia (PCD). PCD is a rare, usually autosomal recessive, genetically heterogeneous disorder characterized by sino-pulmonary disease, laterality defects, and male infertility. Ciliary ultrastructural defects are identified in approximately 90% of PCD patients and involve the outer dynein arms, inner dynein arms, or both. Diagnosing PCD is challenging and requires a compatible clinical phenotype together with tests such as ciliary ultrastructural analysis, immunofluorescent staining, ciliary beat assessment, and/or nasal nitric oxide measurements. Recent mutational analysis demonstrated that 38% of PCD patients carry mutations of the dynein genes DNAI1 and DNAH5. Increased understanding of the pathogenesis will aid in better diagnosis and treatment of PCD.

中文翻译：

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睫状结构和功能的遗传缺陷。

纤毛是从细胞膜延伸的类似头发的结构，具有多种生物学功能。感觉和运动性纤毛的结构和功能的主要（遗传）缺陷导致多种纤毛病。涉及活动性纤毛（和呼吸道）的最突出的遗传异常是原发性睫状运动障碍（PCD）。PCD是一种罕见的，通常为常染色体隐性遗传遗传异质性疾病，其特征为中肺疾病，侧身缺陷和男性不育。在大约90％的PCD患者中发现了睫状体超微结构缺陷，并涉及到外部达因臂，内部达因臂或这两者。诊断PCD具有挑战性，需要兼容的临床表型以及诸如纤毛超微结构分析，免疫荧光染色，纤毛搏动评估，和/或鼻腔一氧化氮测量。最近的突变分析表明，有38％的PCD患者携带了动力蛋白基因DNAI1和DNAH5的突变。对发病机制的更多了解将有助于更好地诊断和治疗PCD。