Primary Ciliary Dyskinesia: Pathogenesis, Diagnosis, and Management

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Reem Issa, Peter Alexander, Shakthi Visagan, Sneha E. Thomas, Rashmi K. S., Vasavi Gorantla


Primary ciliary dyskinesia (PCD), also known as congenital Kartagener’s syndrome, is a multifactorial pleiotropic disorder that commonly affects patients throughout their life, from fetal development to death. It owes its clinical presentation to the number of genetic defects that lead to abnormally functioning or nonfunctional cilia throughout the body. In particular, it affects the respiratory system and the nasopharyngeal ducts significantly. Much like Cystic Fibrosis (CF), which presents with the buildup of mucus and the presence of unwanted bacterial biofilms, impaired cilia in PCD patients often leads to life-long respiratory distress, bronchiectasis, and persistent respiratory infections. At birth, PCD patients can also present with situs abnormalities, as the cilia during critical developmental stages concerning left-right partitioning fail to move fluid containing developmental signaling compounds leading to misplaced primordial structures. The genetics and the etiology of this disease are not yet fully understood and are actively being studied, but the most common phenotypes are defects to the ciliary outer arm, inner arm, and micro-tubular arrangements. Furthermore, due to the complex, multifaceted nature of this disease and its symptoms, management of PCD is complex and likely involves a combination of both pharmaceutical and non-pharmaceutical approaches. This review highlights the pathogenesis and pathophysiology of PCD and the appropriate diagnostic methods and management of PCD as a means of providing clinically useful information as the study of this disease rapidly advances.

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Reem Issa, Peter Alexander, Shakthi Visagan, Sneha E. Thomas, Rashmi K. S., Vasavi Gorantla. (2021). Primary Ciliary Dyskinesia: Pathogenesis, Diagnosis, and Management. Annals of the Romanian Society for Cell Biology, 9288–9298. Retrieved from