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Updated: Nov 15, 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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Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia

Evans Machogu1, Benjamin Gaston1

  • 1Section of Pediatric Pulmonology, Allergy and Sleep Medicine, Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, IN 46202, USA.

Children (Basel, Switzerland)
|March 6, 2021
PubMed

Insights

Primary ciliary dyskinesia (PCD) is a genetic disorder affecting mucociliary clearance, leading to respiratory issues and other symptoms. Early diagnosis in newborns with respiratory distress and specific features is crucial for timely intervention.

Area of Science:

  • Genetics
  • Pulmonology
  • Pediatrics

Background:

  • Primary ciliary dyskinesia (PCD) is an inherited disorder with over 45 known genes, typically autosomal recessive.
  • It presents heterogeneously, causing chronic respiratory issues, sinusitis, otitis media with hearing loss, and male infertility.
  • About 50% of patients exhibit situs inversus totalis.

Purpose of the Study:

  • To highlight the clinical heterogeneity and diagnostic challenges of Primary ciliary dyskinesia (PCD).
  • To emphasize the importance of early recognition of PCD in neonates presenting with respiratory distress and specific clinical or radiographic findings.

Main Methods:

  • Review of clinical manifestations and genetic basis of Primary ciliary dyskinesia (PCD).
  • Analysis of diagnostic delays and recommended workup strategies for neonates.

Main Results:

  • Neonatal respiratory distress affects over 80% of PCD patients due to impaired mucociliary clearance.
  • Delayed diagnosis is common due to symptom overlap with other neonatal respiratory conditions.
  • Specific clinical features, radiographic findings, and organ laterality defects warrant PCD investigation.

Conclusions:

  • Early identification of Primary ciliary dyskinesia (PCD) in newborns is critical.
  • Prompt workup in neonates with respiratory distress and compatible features can improve outcomes.
  • Recognizing laterality defects and respiratory symptoms aids in timely PCD diagnosis.

Keywords:
neonatal respiratory distressprimary ciliary dyskinesia

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