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Nussbaumer M, Kieninger E, Tschanz SA, Savas ST, Casaulta C, Goutaki M, Blanchon S, Jung A, Regamey N, Kuehni CE, Latzin P, Müller L. Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms. ERJ Open Res. 2021 Nov 1;7(4):00353-2021
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Comparison of the three algorithms for PCD diagnosis. Adapted from the ERS [5] and the ATS [7] guidelines. Boxes and arrows marked in blue indicate minimal requirements for a diagnosis. #nNO can only be used if performed with a chemiluminescence device according to a standard protocol, provided the tested person is >5 years old and able to cooperate. A low nNO level should be repeated to ensure the low value is not due to a respiratory infection [7]. ¶Testing for mutations in >12 disease-associated PCD genes, including deletion/duplication [7]. +Cell culture at the air-liquid interface (ALI). §Further investigations (HSVM, immunofluorescence and TEM) are always preferably done by analysing the material of the ALI cell culture. Fresh material is only used if the cell culture is not successful. fGenetic analysis is performed according to newest research findings and the number of tested genes increases constantly. ATS: American Thoracic Society; ERS: European Respiratory Society; HSVM: high-speed videomicroscopy; IF: immunofluorescence staining; nNO: nasal nitric oxide; PCD: primary ciliary dyskinesia; PCD-UNIBE: comprehensive diagnostic centre at the University Children's Hospital, Inselspital Bern, Switzerland; TEM: transmission electron microscopy.