Department of Pediatrics, Division of Newborn Medicine, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110,USA.
Department of Medicine, Division of Pulmonary and Critical Care Medicine, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110, USA.
Cells. 2021 Dec 31;11(1):125. doi: 10.3390/cells11010125.
Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells to direct fluid flow. During human development motile cilia guide determination of the left-right axis in the embryo, and in the fetal and neonatal periods they have essential roles in airway clearance in the respiratory tract and regulating cerebral spinal fluid flow in the brain. Dysregulation of motile cilia is best understood through the lens of the genetic disorder primary ciliary dyskinesia (PCD). PCD encompasses all genetic motile ciliopathies resulting from over 60 known genetic mutations and has a unique but often underrecognized neonatal presentation. Neonatal respiratory distress is now known to occur in the majority of patients with PCD, laterality defects are common, and very rarely brain ventricle enlargement occurs. The developmental function of motile cilia and the effect and pathophysiology of motile ciliopathies are incompletely understood in humans. In this review, we will examine the current understanding of the role of motile cilia in human development and clinical considerations when assessing the newborn for suspected motile ciliopathies.
纤毛是从组织受限的细胞亚群向外突出的毛发状细胞器，可引导液体流动。在人类发育过程中，纤毛引导胚胎的左右轴确定，在胎儿和新生儿期，它们在呼吸道清除和调节大脑脊髓液流动方面发挥着重要作用。纤毛病的调控失调可以通过原发性纤毛运动障碍（PCD）这一遗传疾病的视角来更好地理解。PCD 包括所有因 60 多种已知基因突变而导致的遗传性纤毛运动障碍，具有独特但常被低估的新生儿表现。现在已知大多数 PCD 患者都会出现新生儿呼吸窘迫，侧位缺陷很常见，极少数情况下会发生脑室扩大。纤毛的发育功能以及纤毛运动障碍的影响和病理生理学在人类中尚未完全了解。在这篇综述中，我们将探讨纤毛在人类发育中的作用的现有认识，以及在评估疑似纤毛运动障碍的新生儿时的临床注意事项。
