Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective
Related Experiment Video
Updated: Oct 25, 2025
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Michael Glenn O'Connor1, Amjad Horani2,3, Adam J Shapiro4
1Pediatric Pulmonary Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Insights
Primary Ciliary Dyskinesia (PCD) diagnosis in North America uses a guideline recommending nasal nitric oxide testing for children over 5. Genetic testing or electron microscopy confirms low results, aiding in managing this rare respiratory condition.
Area of Science:
- Pulmonology
- Genetics
- Rare Diseases
Background:
- Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting respiratory cilia.
- PCD presents with chronic oto-sino-pulmonary disease, often overlapping with common respiratory conditions.
- Accurate diagnosis is challenging due to varied clinical presentations and lack of a single definitive test.
Purpose of the Study:
- To review the North American diagnostic process for Primary Ciliary Dyskinesia.
- To improve understanding and adherence to current PCD diagnostic guidelines.
- To foster collaboration between North American and international diagnostic approaches.
Main Methods:
- Review of the 2018 American Thoracic Society (ATS) clinical diagnostic guideline for PCD in North America.
- Analysis of recommended diagnostic pathways, including nasal nitric oxide (nNO) testing, genetic testing, and ciliary electron microscopy (EM).
- Consideration of resource limitations and accessibility within the United States and Canada.
Main Results:
- Nasal nitric oxide (nNO) testing is the recommended first-line diagnostic tool for patients aged 5 and older with a compatible phenotype.
- Low nNO values necessitate confirmation via genetic testing or ciliary electron microscopy (EM).
- Isolated genetic testing is deemed appropriate for cases with strong clinical suspicion of PCD, acknowledging variable access to nNO testing.
Conclusions:
- The North American PCD diagnostic guideline aims to standardize care and improve diagnostic accuracy.
- Referral to accredited PCD centers is advised for complex or unresolved cases.
- Harmonizing diagnostic strategies globally is crucial for advancing PCD patient care.
Abstract:
Primary Ciliary Dyskinesia (PCD) is a rare, under-recognized disease that affects respiratory ciliary function, resulting in chronic oto-sino-pulmonary disease. The PCD clinical phenotype overlaps with other common respiratory conditions and no single diagnostic test detects all forms of PCD. In 2018, PCD experts collaborated with the American Thoracic Society (ATS) to create a clinical diagnostic guideline for patients across North America, specifically considering the local resources and limitations for PCD diagnosis in the United States and Canada. Nasal nitric oxide (nNO) testing is recommended for first-line testing in patients ≥5 years old with a compatible clinical phenotype; however, all low nNO values require confirmation with genetic testing or ciliary electron micrograph (EM) analysis. Furthermore, these guidelines recognize that not all North American patients have access to nNO testing and isolated genetic testing is appropriate in cases with strong clinical PCD phenotypes. For unresolved diagnostic cases, referral to a PCD Foundation accredited center is recommended. The purpose of this narrative review is to provide insight on the North American PCD diagnostic process, to enhance the understanding of and adherence to current guidelines, and to promote collaboration with diagnostic pathways used outside of North America.
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