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Accuracy of Clinical Phenotype for Diagnosing Adults With Primary Ciliary Dyskinesia

Amanda Marino1, Zofia N Zysman-Colman2, Joy Agbonze3

  • 1Division of Respiratory Medicine, McGill University Health Center, Montreal, QC, Canada.

Chest
|June 5, 2026
PubMed

Insights

Diagnosing primary ciliary dyskinesia (PCD) in adults is improved by considering key clinical criteria alongside infertility and nasal nitric oxide (nNO) measurements. These factors enhance diagnostic accuracy for this rare genetic disorder.

Area of Science:

  • Pulmonology
  • Genetics
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a rare, heterogeneous genetic disorder affecting cilia function, leading to chronic respiratory issues.
  • Diagnosis of PCD is challenging due to its varied presentation and the need for specialized testing.
  • Established diagnostic criteria for PCD have been validated in children but require further exploration in adult populations.

Purpose of the Study:

  • To evaluate the diagnostic accuracy of key clinical criteria, additional PCD-related features, and nasal nitric oxide (nNO) levels in adults suspected of having PCD.
  • To determine the effectiveness of combining clinical features and nNO measurements for improved PCD diagnosis in adults.

Main Methods:

  • A retrospective analysis of 156 adult patients (≥18 years) referred for suspected PCD between 2013 and 2024.
  • Systematic collection of four key PCD clinical criteria (modified for early childhood onset), additional PCD-related features (sinusitis, otitis, infertility, family history), and nasal nitric oxide (nNO) measurements.
  • Patients with ≥2 key criteria or low nNO (<77 nL/min) underwent genetic testing and/or transmission electron microscopy.

Main Results:

  • Of 156 referred adults, 26% had definite PCD. The presence of ≥2 of 4 key PCD clinical criteria showed 95% sensitivity and 88% specificity.
  • Adding infertility/subfertility to the key criteria (5 features total) increased sensitivity to 100% while maintaining 84% specificity.
  • Nasal nitric oxide (nNO) <77 nL/min demonstrated high diagnostic accuracy with 88% sensitivity and 98% specificity for PCD in adults.

Conclusions:

  • Key PCD clinical criteria, when supplemented with infertility/subfertility assessment and nNO measurement, provide high diagnostic accuracy for PCD in adults.
  • Clinicians should incorporate these expanded criteria and nNO screening into the diagnostic workup for adults with suspected PCD.
  • These findings aid in earlier and more accurate diagnosis of PCD in the adult population, facilitating timely management.
Abstract

Keywords:
adultsbronchiectasisdiagnosticnasal nitric oxidephenotypeprimary ciliary dyskinesia

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