Primary ciliary dyskinesia: a national expert consensus statement on standards of care

Primary ciliary dyskinesia (PCD) is a genetically and clinically diverse disorder characterised by loss of normal ciliary function leading to chronic oto-sino pulmonary disease, situs abnormalities and subfertility in men and women. There is limited evidence to support robust guidelines on the management of children and adults with PCD; however, there is a clear clinical need to establish a framework of care for the follow-up of these patients. The European Respiratory Society (ERS) has published consensus statements on diagnostic and treatment approaches in children with PCD, and the BEAT-PCD (Better Experimental Approaches to Treat PCD) network provides guidance on infection prevention and control. This is a national consensus statement to outline a set of standards for the provision of specialist care for children and adults with PCD living in England. A national PCD expert panel made up of specialists working in both paediatric and adult UK highly specialist management services, was established to create a consensus statement on the minimum standards of care for PCD. Using a modified Delphi process, consensus to a statement required at least 80% agreement within the PCD expert panel group. Patient organisation representatives were involved in reviewing the statement and have produced an accompanying layperson summary. We present a consensus statement on 15 standards covering provision of pulmonary, ear, nose and throat, and fertility care, screening for situs abnormalities and transition from paediatric to adult care services. It is targeted at clinicians and allied health professionals managing paediatric and adult patients with PCD, patient organisations and patients and their families.