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Updated: Jun 13, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

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Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management

Rachael Collison1, Saara A Hyatali2, Antoniya Kamenova3

  • 1Department of Respiratory Medicine, Northwick Park Hospital, London North West University Healthcare NHS Trust, London, UK.

Clinical Medicine (London, England)
|May 2, 2025
PubMed

Insights

Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function, causing respiratory issues and infertility. This review aids clinicians in understanding PCD

Area of Science:

  • Genetics
  • Respiratory Medicine
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder impacting motile cilia function.
  • Manifestations include neonatal distress, chronic sinopulmonary disease, and laterality defects.
  • In adults, PCD is an underdiagnosed cause of bronchiectasis and subfertility.

Purpose of the Study:

  • To provide clinicians with a comprehensive overview of Primary ciliary dyskinesia (PCD).
  • To discuss the etiology, clinical presentation, diagnostic approaches, and management strategies for PCD.

Main Methods:

  • This is a review article.
  • It synthesizes current knowledge on Primary ciliary dyskinesia (PCD).
  • Focuses on clinical aspects relevant to healthcare providers.

Main Results:

  • Primary ciliary dyskinesia (PCD) presents diverse clinical features from infancy to adulthood.
  • Accurate diagnosis and multidisciplinary management are crucial for patient outcomes.
  • Underdiagnosis in adults contributes to conditions like bronchiectasis and infertility.

Conclusions:

  • Enhanced clinical awareness and understanding of Primary ciliary dyskinesia (PCD) are necessary.
  • Multidisciplinary care is essential for optimizing the management of patients with PCD.
  • Further research can improve diagnostic accuracy and therapeutic options for this rare condition.

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