Primary ciliary dyskinesia: Clinical and tomographic characterization using a combined diagnostic approach

Area of Science:

• Respiratory Medicine
• Genetics
• Diagnostic Imaging

Background:

• Primary ciliary dyskinesia (PCD) presents with diverse clinical symptoms, complicating diagnosis.
• Accurate and timely diagnosis of PCD is crucial for patient management and outcomes.

Purpose of the Study:

• To evaluate a diagnostic strategy for suspected primary ciliary dyskinesia (PCD).
• To describe clinical and imaging findings in patients with suspected PCD.
• To assess the utility of screening questionnaires, nasal nitric oxide (nNO), high-speed videomicroscopy (HSVM), and genetic analysis.

Main Methods:

• A cross-sectional observational study of 110 patients with suspected PCD.
• Utilized screening questionnaires, nasal nitric oxide (nNO) measurements, HSVM, and genetic testing.
• Implemented a diagnostic algorithm to classify patients into highly likely, highly unlikely, or indeterminate PCD groups.

Main Results:

• PCD was diagnosed in 52 patients, with a median age of 8.8 years.
• The proposed algorithm identified PCD as highly unlikely in 49% of referred cases.
• Pulmonary involvement was common on CT scans at diagnosis.

Conclusions:

• The diagnostic strategy successfully identified a significant proportion of patients with unlikely PCD, potentially streamlining diagnosis in resource-limited settings.
• Patients diagnosed with PCD often present with established lung damage.
• The median age of PCD diagnosis in this cohort was later than reported in other countries.