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- primary ciliary dyskinesia
- nasal nitric oxide
- high-speed video microscopy analysis
- transmission electron microscopy
Primary ciliary dyskinesia (PCD) is a rare genetic condition with a prevalence of1:10 000 -20 000 live births.1 The prevalence is higher in certain ethnic groups due to consanguineous marriages.2 It is a phenotypically and genetically heterogeneous disorder of ciliary structure and function and affects the lungs, nose, sinuses, ears and fertility.
Newborns can present with respiratory distress. Older children present with chronic wet cough, recurrent upper and lower respiratory tract infections and later bronchiectasis. Up to 50% of patients with PCD also have situs inversus. Adults may present with infertility. Kartagener’s syndrome is the classical triad of situs inversus, bronchiectasis and chronic sinusitis.
General paediatricians, neonatologists and cardiologists who may encounter children with such signs and symptoms need to be aware of the possibility of PCD. These patients need testing for PCD and if symptomatic, then treatment should be started while awaiting the diagnosis.
The European Respiratory Society (ERS) previously published a consensus statement in 2009,3 providing a detailed review of the aetiology, presentation, diagnosis and management of PCD.
Information about the current guideline
In 2016, an ERS Task Force developed this guideline to provide evidence-based recommendations for the diagnosis of PCD.4 This guideline provides a diagnostic algorithm based on clinical features and available diagnostic tests. See box 1 for links to useful resources.
Links to resources
European Respiratory Society journal. Link to full guideline4: http://erj.ersjournals.com/content/early/2016/11/11/13993003.01090-2016.long.
European Respiratory Society 2009 consensus statement.3 Useful for a full review of primary ciliary dyskinesia (PCD): http://erj.ersjournals.com/content/erj/34/6/1264.full.pdf.
American College of Chest Physicians (CHEST) guideline 2017: management of children with chronic wet cough and protracted bacterial bronchitis: http://journal.publications.chestnet.org/article.aspx?articleid=2598972. 6
Underlying evidence base
The Task Force searched Medline and EMBASE for six individual PICO (population, intervention, comparison and outcome) questions addressing clinical factors and diagnostic techniques. This included: clinical features, nasal nitric oxide (nNO), …
Contributors RAD drafted the manuscript and it was revised and was edited by PK.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Disclaimer The views expressed in the submitted article are his or her own and not an official position of the institution or funder.
Competing interests None declared.
Provenance and peer review Commissioned; externally peer reviewed.