Department of Pediatrics, Jessenius Faculty of Medicine and University Hospital, Comenius University in Bratislava, Martin, Slovakia.
Department of Pathophysiology, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovakia.
Adv Exp Med Biol. 2021;1335:79-85. doi: 10.1007/5584_2021_617.
Primary ciliopathies are a group of disorders associated with abnormal formation and function of primary cilia. Many cilia-associated proteins found in primary cilia are also present in motile cilia. Such proteins are important for the ciliary base, such as the transition zone or basal bodies, and the intraflagellar transport. Their exact role in the respiratory motile cilia is unsettled. In this prospective clinical single-center study, we investigated the hypothesis that these proteins regulate the function of motile cilia. We addressed the issue by defining the motile cilia beat frequency in the respiratory tract of patients with primary ciliopathies accompanied by chronic kidney disease and comparing it in those without kidney involvement. Ciliary beat frequency in the nasal mucosa samples was evaluated by the ciliary analysis software LabVIEW. Both children and their parents with primary ciliopathies and kidney involvement had significantly lower median airway ciliary beat frequencies than those without kidney involvement who have normal ciliary motility. Further, the ciliary beat frequency is inversely associated with the serum creatinine level. These findings strongly suggest that kidney involvement in patients with primary ciliopathy may underlie the development of motile cilia dysfunction in the respiratory tract, potentially increasing respiratory morbidity.
原发性纤毛病是一组与初级纤毛异常形成和功能相关的疾病。许多在初级纤毛中发现的纤毛相关蛋白也存在于运动纤毛中。这些蛋白对于纤毛的基底，如过渡区或基体，以及鞭毛内运输都很重要。它们在呼吸道运动纤毛中的确切作用尚未确定。在这项前瞻性临床单中心研究中，我们假设这些蛋白调节运动纤毛的功能。我们通过定义原发性纤毛病伴慢性肾脏病患者呼吸道中的运动纤毛拍打频率，并将其与无肾脏受累者进行比较，来解决这个问题。通过 LabVIEW 纤毛分析软件评估鼻黏膜样本中的纤毛拍打频率。有肾脏受累的原发性纤毛病患儿及其父母的气道中纤毛的平均拍打频率明显低于无肾脏受累且纤毛运动正常的患者。此外，纤毛拍打频率与血清肌酐水平呈负相关。这些发现强烈表明原发性纤毛病患者的肾脏受累可能导致呼吸道运动纤毛功能障碍的发展，从而增加呼吸道发病率。
