title: Primary ciliary dyskinesia: overlooked and undertreated in children.
abstract: Primary ciliary dyskinesia (PCD) is a multi-organ disorder associated with chronic oto-sino-pulmonary disease, neonatal respiratory distress, situs abnormalities and reduced fertility. Repeated respiratory tract infections leads to the almost universal development of bronchiectasis. These clinical manifestations are a consequence of poorly functioning motile cilia. However, confirming the diagnosis is quite difficult and is often delayed, so the true incidence of PCD may be significantly higher than current estimates. Nasal nitric oxide has been earmarked as a useful screening tool for identifying patients, but its use is limited in pre-school-aged children. Due to the rarity of PCD, the evidence base for management is somewhat limited, and treatment regimens are extrapolated from other suppurative lung disorders, like cystic fibrosis.
authors.affiliation: Discipline of Paediatrics, School of Women's and Children's Health, University of New South Wales, New South Wales, Australia; Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney Medical School, Sydney, New South Wales, Australia.
authors.forename: Patrick
authors.initials: P
authors.lastname: Hosie
authors.forename: Dominic A
authors.initials: DA
authors.lastname: Fitzgerald
authors.forename: Adam
authors.initials: A
authors.lastname: Jaffe
authors.forename: Catherine S
authors.initials: CS
authors.lastname: Birman
authors.forename: Lucy
authors.initials: L
authors.lastname: Morgan
mesh_terms: D001987:Bronchiectasis / Q000209:etiology*; D002648:Child; D003937:Diagnosis, Differential; D042241:Early Diagnosis; D006801:Humans; D007619:Kartagener Syndrome / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D009569:Nitric Oxide / Q000032:analysis*; D009666:Nose / Q000737:chemistry; D035583:Rare Diseases; D012141:Respiratory Tract Infections / Q000150:complications / Q000209:etiology*
chemical_list: D009569:Nitric Oxide
keywords: Kartagener's syndrome; clinical management; diagnosis; immotile cilia syndrome; primary ciliary dyskinesia