title: Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.
abstract: Human cilia were once thought merely to be important in respiratory mucociliary clearance, with primary ciliary dyskinesia (PCD) the sole manifestation of ciliary dysfunction. There are now known to be three types of cilia: primary, nodal and motile. Cilia are complex, likely involving more than 1000 gene products; in this review, recent advances in PCD genetics, and the potential relationships with genes causing other ciliopathies, are discussed. PCD is the most important respiratory disease, characterized by upper and lower airway infection and inflammation and disorders of laterality. Ciliary gene mutations are now known to cause single organ disease, as well as complex syndromes. The focus of the review is primarily PCD, in the context of the expanding ciliopathy spectrum. The authors consider the clinical situations in which ciliary disease should be considered, and the implications for specialist respiratory practice.
authors.affiliation: Department of Paediatric Respirology, Imperial School of Medicine at National Heart and Lung Institute, London, UK. a.bush@rbh.nthames.nhs.uk
authors.forename: Andrew
authors.initials: A
authors.lastname: Bush
authors.forename: Claire
authors.initials: C
authors.lastname: Hogg
mesh_terms: D000818:Animals; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D056444:Axonemal Dyneins / Q000235:genetics; D001987:Bronchiectasis / Q000209:etiology; D002923:Cilia / Q000502:physiology / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D003598:Cytoskeletal Proteins / Q000235:genetics; D004195:Disease Models, Animal; D005100:Expectorants / Q000627:therapeutic use; D005455:Fluorescent Antibody Technique; D030342:Genetic Diseases, Inborn / Q000150:complications; D005820:Genetic Testing; D006801:Humans; D046529:Microscopy, Electron, Transmission; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009154:Mutation; D009569:Nitric Oxide / Q000378:metabolism; D011379:Prognosis; D011506:Proteins / Q000235:genetics; D011868:Radioisotopes; D013147:Spirometry; D013879:Thioredoxins / Q000235:genetics
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; C556028:CCDC40 protein, human; D003598:Cytoskeletal Proteins; C425071:DNAI1 protein, human; C569367:DNAL1 protein, human; D005100:Expectorants; D008869:Microtubule-Associated Proteins; C452260:NME8 protein, human; D011506:Proteins; C573132:RSPH9 protein, human; D011868:Radioisotopes; D009569:Nitric Oxide; D013879:Thioredoxins; D056444:Axonemal Dyneins; C465433:DNAH11 protein, human