Diagnosis of primary ciliary dyskinesia: searching for a gold standard

Diagnostic Methods in Primary Ciliary Dyskinesia

“…There is no single reference standard diagnostic test for PCD [15] and diagnosis usually requires a number of technically demanding, sophisticated investigations. The availability and combination of tests vary between countries [16], and there is no globally accepted consensus as to which diagnostic results constitute a definite positive diagnosis, possible diagnosis or excludes diagnosis.…”

“…Moreover there is no global agreement regarding the standardisation of conduct or reporting of any of the methods used to diagnose PCD. Diagnosis in Europe is generally based on the following criteria [11,15,17,18]: in a person with a clinical history consistent with PCD confirmation of the diagnosis by at least two of the following methods: (1) "hallmark" high speed videomicroscopy analysis (HVMA), (2) "hallmark" TEM, (3) biallellic disease-causing mutations identified by gene testing, (4) abnormally low nasal nitric oxide (nNO). If HVMA and nNO are the only abnormal tests, these tests should be repeated before making a diagnosis.…”

“…As the number of genes increases, the North American Genetic Disorders of Mucociliary Clearance Consortium propose using nNO testing in patients with a clinical phenotype to identify patients likely to have PCD, followed by genetic testing to confirm the diagnosis, reserving HVMA and TEM for cases that are not identified by PCD multigene panel testing [15]. The diagnostic pathway remains controversial, for example some groups believe that HVMA should not be used in clinical practice but reserved as a research tool [20,21].…”

Diagnostic testing in primary ciliary dyskinesia

“…This is typical for many diseases, including rare ones like PCD [3], and common ones like asthma. It complicates research, but should not impede it; or else we will never progress.…”

Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy

“…The electron microscopic cilia study from a nasal or bronchial sample can detect the cilia defects, mainly in the dynein arms (DA) from the outer doublets, or a missing central pair associated with a disarrangement of the microtubules. The ciliary beat frequency can be assessed by a light microscopy and more recently by a high speed video-microscopy, available only in specialist centers across the globe 1,4 . The PCD medical treatment, based on daily airway clearance and antibiotics, is not standardized.…”