Time trends in diagnostic testing for primary ciliary dyskinesia in Europe

Florian S. Halbeisen, Amelia Shoemark, Angelo Barbato, Mieke Boon, Siobhan Carr, Suzanne Crowley, Rob Hirst, Bulent Karadag, Cordula Koerner-Rettberg, Michael R. Loebinger, Jane S. Lucas, Bernard Maitre, Henryk Mazurek, Uğur Özçelik, Vendula Martinů, Nicolaus Schwerk, Guillaume Thouvenin, Stefan A. Tschanz, Panayiotis Yiallouros, Myrofora GoutakiClaudia E. Kuehni

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8 Citations (Scopus)
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Despite recent advances in diagnostic methods, diagnosis of primary ciliary dyskinesia (PCD) remains complex. We need a combination of different diagnostic tests, and all have their limitations [1]. In 2009, the first European Respiratory Society Task Force (ERS TF) on PCD in children published recommendations [2], suggesting that: 1) Nasal nitric oxide (nNO) should be measured to screen for PCD in patients aged ≥5 years [3]; and 2) video microscopy (VM) analysis of ciliary beat pattern and frequency [4] plus electron microscopy (EM) [5] should be the key confirmatory diagnostic tests. Genetic testing was not recommended as part of the initial diagnostic testing, but as additional test for inconclusive cases. The recommended test combination was nNO, VM and EM for patients aged ≥5 years and VM plus EM for younger patients.

Original languageEnglish
Article number1900528
Number of pages8
JournalEuropean Respiratory Journal
Issue number4
Early online date4 Jul 2019
Publication statusPublished - Oct 2019


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