Evidence-based recommendations for the use of each of the six tests considered for primary ciliary dyskinesia (PCD) diagnosis
Which patients should be referred for diagnostic testing? |
Based on moderate confidence in the evidence:
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In patients suspected of having PCD should nasal nitric oxide be used as a diagnostic tool? Based on moderate confidence in the evidence, we recommend that:
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In patients suspected of having PCD should HSVA be used as a diagnostic tool? Based on low confidence in the evidence, we recommend:
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In patients suspected of having PCD should TEM be used as a diagnostic tool? Based on low confidence in the evidence, we recommend:
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In patients suspected of having PCD, should genotyping be used as a diagnostic tool? There were no studies that fulfilled inclusion criteria to answer this question. Statements to assist the clinician are made in the genetics sections but these are not evidence based. Therefore, we could not make formal recommendations as for other diagnostic procedures. However, we have provided a list of Task Force statements on genetics, which is based upon agreement between experts rather than published evidence. |
In patients suspected of having PCD, should immunofluorescence be used as a diagnostic tool? There were no studies that fulfilled inclusion criteria to answer this question. Statements to assist the clinician are made in the immunofluorescence sections but these are not evidence based. Therefore, we could not make formal recommendations as for other diagnostic procedures. However, we have provided a list of Task Force statements on immunofluorescence, based upon agreement between experts rather than published evidence. |
TEM: transmission electron microscopy; HSVA: high-speed video microscopy analysis. #: normal ciliary ultrastructure, as resolvable by TEM, does not exclude the diagnosis of PCD (16% PCD-positive patients have TEM without a detectable defect); ¶: patients with hallmark ciliary ultrastructure defects for PCD (absence of outer dynein arms, combined absence of inner and outer dynein arms, inner dynein arm absence combined with microtubular disarrangement) assessed by TEM almost always have PCD (false-positive results are very rare ≈0.7%). CBF/P: ciliary beat frequency/pattern; ALI: air–liquid interface.