Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms

Abstract

BackgroundDiagnosis of primary ciliary dyskinesia (PCD) is challenging since there is no gold standard test. The European Respiratory (ERS) and American Thoracic (ATS) Societies developed evidence-based diagnostic guidelines with considerable differences.ObjectiveWe aimed to compare the algorithms published by the ERS and the ATS with each other and with our own PCD-UNIBE algorithm in a clinical setting. Our algorithm is similar to the ERS algorithm with additional immunofluorescence staining. Agreement (Cohen's κ) and concordance between the three algorithms were assessed in patients with suspicion of PCD referred to our diagnostic centre.ResultsIn 46 out of 54 patients (85%) the final diagnosis was concordant between all three algorithms (30 PCD negative, 16 PCD positive). In eight patients (15%) PCD diagnosis differed between the algorithms. Five patients (9%) were diagnosed as PCD only by the ATS, one (2%) only by the ERS and PCD-UNIBE, one (2%) only by the ATS and PCD-UNIBE, and one (2%) only by the PCD-UNIBE algorithm. Agreement was substantial between the ERS and the ATS (κ=0.72, 95% CI 0.53–0.92) and the ATS and the PCD-UNIBE (κ=0.73, 95% CI 0.53–0.92) and almost perfect between the ERS and the PCD-UNIBE algorithms (κ=0.92, 95% CI 0.80–1.00).ConclusionThe different diagnostic algorithms lead to a contradictory diagnosis in a considerable proportion of patients. Thus, an updated, internationally harmonised and standardised PCD diagnostic algorithm is needed to improve diagnostics for these discordant cases.

Bronchiectasis

“…Recently developed procedures such as immunofluorescence and air liquid-interface cell cultures may also be helpful to differentiate PCD from secondary dyskinesia. 11 However, these methods require high levels of expertise, and their cost and availability vary among diagnostic centers, even within a country, requiring adapted algorithms. 12 An internationally harmonized, adapted and standardized diagnostic algorithm is needed to prevent PCD underdiagnosis.…”

Similar effect of lidocaine and saline on ciliary beating of nasal epithelial cells in vitro

“…For the diagnosis of PCD, the dynamics of the cilia of fresh brushings or scratched-off cell cultures are analysed with high-speed videomicroscopy (HSVM) regarding ciliary beating frequency (CBF) and pattern (CBP) [8,13]. HSVM is a recognised method for PCD diagnostics in Europe [4,8,13,14], however, it is still far from being standardised and several topics, such as ideal temperature or quantitative CBP evaluation, are still subject of current debate [15,16].…”

X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review

“… 2 The potential causes of bronchiectasis include nontuberculous mycobacteria, diffuse panbronchiolitis, sinus bronchial syndrome, childhood lung infections, and cystic fibrosis. Diagnostic algorithms utilizing nasal nitric oxide (NO) measurements, high‐speed video microscopy (HSVM), transmission electron microscopy (TEM), and genetic testing, can aid in the diagnosis of primary ciliary dyskinesia (PCD), 3 although diagnostic criteria remain unclear in Japan. Non‐specific bronchiectasis symptoms, including chronic cough and sputum contribute to delayed diagnosis, and the underlying cause may remain unknown.…”