Diagnosis and management of children with primary ciliary dyskinesia.
Primary ciliary dyskinesia (PCD) is a rare, genetic disorder of the motile cilia characterised by chronic lung disease, nasal and sinus disease, chronic ear infections with glue ear leading to possible hearing impairment, and subfertility. Half of patients have organ laterality defects. Despite symptoms being present from birth, PCD remains underdiagnosed. Early diagnosis and symptom management may reduce morbidity, improve quality of life and ensure children are adequately supported to meet their full potential. This article seeks to raise awareness of PCD in children's nurses who are well placed to identify children for referral to the national PCD diagnostic service. It examines the clinical characteristics of the disease along with the complexities and limitations of diagnostic testing. In addition, it explores the management of children with PCD within the national PCD management service for children.
['Harris|Amanda|A|']
D002925:Ciliary Motility Disorders D003371:Cough D003937:Diagnosis, Differential D030342:Genetic Diseases, Inborn D060005:Genotyping Techniques D006801:Humans D007223:Infant D007231:Infant, Newborn D009569:Nitric Oxide D011788:Quality of Life D012127:Respiratory Distress Syndrome, Newborn D012220:Rhinitis D013222:State Medicine D006113:United Kingdom
management primary ciliary dyskinesia PCD cilia diagnostics child health respiratory conditions