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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

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Presentation of primary ciliary dyskinesia in children: 30 years' experience

Patrick H Hosie1, Dominic A Fitzgerald2,3, Adam Jaffe4,5

  • 1Discipline of Paediatrics, School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.

Journal of Paediatrics and Child Health
|December 17, 2014
PubMed

Insights

Primary ciliary dyskinesia (PCD) is often diagnosed late in childhood. Key symptoms include neonatal respiratory distress, chronic cough, and rhinosinusitis, prompting a need for increased clinical awareness.

Area of Science:

  • Pediatric Pulmonology
  • Rare Diseases
  • Genetics

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting approximately 1 in 15,000 individuals.
  • It leads to recurrent respiratory infections, progressive lung damage, and hearing loss, often with delayed diagnosis.
  • Early recognition is crucial for timely management and improved patient outcomes.

Purpose of the Study:

  • To review the presenting clinical features of children diagnosed with PCD.
  • To analyze diagnostic patterns over a 30-year period at Australia's primary PCD diagnostic service.
  • To identify common symptom clusters associated with PCD in pediatric patients.

Main Methods:

  • Retrospective review of pediatric patients diagnosed with PCD between 1982 and 2012.
  • Inclusion criteria: diagnosis confirmed by nasal ciliary brushing, electron microscopy, or suggestive phenotype with genetic factors.
  • Data collection focused on presenting symptoms, situs abnormalities, family history, and age at diagnosis.

Main Results:

  • Out of 1,037 referred patients, 8.1% (84 children) were diagnosed with PCD.
  • The median age at diagnosis was 6.4 years, indicating significant diagnostic delay.
  • Common symptoms included neonatal respiratory distress (57%), recurrent cough (81%), rhinosinusitis (71%), and recurrent otitis media (49%).
  • Situs abnormalities were present in 46% of patients, and bronchiectasis was noted in 32% at presentation.

Conclusions:

  • PCD remains under-recognized by healthcare professionals.
  • A combination of neonatal respiratory distress, chronic suppurative cough, and rhinosinusitis is a frequent presentation.
  • Increased awareness of PCD's clinical manifestations can lead to earlier diagnosis and better long-term outcomes.
Abstract

Keywords:
AustraliaKartagener syndromeairway ciliaawarenessciliary motility disorderprimary ciliary dyskinesia

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