Impact of Motile Ciliopathies on Human Development and Clinical Consequences in the Newborn

Cells

Steven L. Brody¹  Rachael M. Hyland² 

[1] Department of Medicine, Division of Pulmonary and Critical Care Medicine, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110, USA;Department of Pediatrics, Division of Newborn Medicine, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110,USA;

关键词: motile cilia;    human development;    primary ciliary dyskinesia;    neonate;   

DOI  :  10.3390/cells11010125

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown