European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review

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. 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.Box 1 ### Links to resources 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), …