Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective

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.