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Bench To Bedside: New Findings in Primary Ciliary Dyskinesia

By Joseph H. Sisson, MD; and Johnny L. Carson, PhD

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Objectives
  1. Define primary ciliary dyskinesia (PCD).
  2. List the locations of cilia and flagella in the body and relate those locations to the disease manifestations of PCD.
  3. Recognize the complexity of the genetic abnormalities that can cause PCD and how studies in single-celled eukaryotic organisms have provided a model for this syndrome.
  4. List the clinical findings for which the clinician should consider the diagnosis of PCD.
  5. Determine the role that ciliary motility analysis, electron microscopy, functional clearance studies, and exhaled nitric oxide have in establishing the diagnosis of PCD.
Key words

axoneme; bronchiectasis; dynein; immotile cilia syndrome; Kartagener’s syndrome; primary ciliary dyskinesia; situs inversus

Abbreviations

ATPase = adenosinetriphosphatase; NO = nitric oxide; PCD = primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a syndrome characterized by productive cough with bronchiectasis and sinusitis since early life and reduced fertility. PCD is a rare syndrome with an estimated incidence of 1:12,500 in the Caucasian population.1 The name of the syndrome is informative. Primary indicates that PCD is a genetic disorder with manifestations present from early life and distinguishes it from acquired mucociliary disorders. Ciliary refers to the fact that all individuals with this syndrome have a defect in ciliary anatomy and/or function. Dyskinesia describes the abnormal or absent ciliary/flagellar movement that is the biologic basis for this syndrome. In this review, we present the background, history, genetics, clinical findings, diagnosis, treatment, and recent developments in our understanding of PCD.

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