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 "gold standard" 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.

• MeSH
• Cilia pathology   ultrastructure   MeSH
• Delphi Technique MeSH
• Diagnosis, Differential MeSH
• Fluorescent Antibody Technique MeSH
• Genetic Testing MeSH
• Kartagener Syndrome diagnosis   genetics   MeSH
• Humans MeSH
• Nitric Oxide analysis   MeSH
• Review Literature as Topic MeSH
• Societies, Medical MeSH
• Microscopy, Electron, Transmission MeSH
• Microscopy, Video MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Research Support, N.I.H., Extramural MeSH
• Practice Guideline MeSH
• Geographicals
• Europe MeSH
• Names of Substances
• Nitric Oxide MeSH

Primary ciliary dyskinesia (PCD) leads to recurrent/chronic respiratory infections, resulting in chronic inflammation and potentially in chronic pulmonary disease with bronchiectasis. We analyzed longitudinal data on body length/height and body mass index (BMI) for 29 children and young adults with PCD aging 1.5-24 years (median, 14.5) who had been diagnosed at the age of 0.5-17 years (median, 8). Of these, 10 carried pathogenic mutations in either DNAH5 or DNAI1. In children with PCD, body length/height progressively decreased from +0.40 ± 0.24 SDS (the 1st birthday), +0.16 ± 0.23 SDS (3 years old), and -0.13 ± 0.21 SDS (5 years old) to -0.54 ± 0.19 SDS (7 years old; P = 0.01 versus 0), -0.67 ± 0.21 SDS (9 years old; P = 0.005 versus 0), -0.52 ± 0.24 SDS (11 years old; P = 0.04 versus 0), and -0.53 ± 0.23 SDS (13 years old; P = 0.03 versus 0). These results reflect low growth rates during the childhood growth period. Thereafter, heights stabilized up to the age of 17 years. The growth deterioration was not dependent on sex or disease severity but was more pronounced in DNAH5 or DNAI1 mutation carriers. BMI did not differ from population standards, which suggests that nutritional deficits are not the cause of growth delay. We conclude that PCD leads to chronic deprivation with significant growth deterioration during childhood.

• Publication type
• Journal Article MeSH