European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

[摘要] The diagnosis of primary ciliary dyskinesia is often confirmed with standard; albeit complex and expensive; tests. In many cases; however; the diagnosis remains difficult despite the array of sophisticated diagnostic tests. There is no xe2x80x9cgold standardxe2x80x9d reference test. Hence; a Task Force supported by the European Respiratory Society has developed this guideline to provide evidence-based recommendations on diagnostic testing; especially in light of new developments in such tests; and the need for robust diagnoses of patients who might enter randomised controlled trials of treatments. The guideline is based on pre-defined questions relevant for clinical care; a systematic review of the literature; and assessment of the evidence using the GRADE (Grading of Recommendations; Assessment; Development and Evaluation) approach. It focuses on clinical presentation; nasal nitric oxide; analysis of ciliary beat frequency and pattern by high-speed video-microscopy analysis; transmission electron microscopy; genotyping and immunofluorescence. It then used a modified Delphi survey to develop an algorithm for the use of diagnostic tests to definitively confirm and exclude the diagnosis of primary ciliary dyskinesia; and to provide advice when the diagnosis was not conclusive. Finally; this guideline proposes a set of quality criteria for future research on the validity of diagnostic methods for primary ciliary dyskinesia.

[学科分类] 呼吸医学