title: Recent advances in primary ciliary dyskinesia.
abstract: Primary ciliary dyskinesia (PCD) is a genetic disease inherited in an autosomal recessive manner. The prevalence of PCD is estimated to be 1 in 20,000 live births. Congenital abnormality of the primary cilia results in situs inversus in 50% of patients. Decreased function of motile cilia causes chronic rhinosinusitis, otitis media with effusion, bronchiectasis and infertility. Cases with situs inversus are considered to show "Kartagener's syndrome", and diagnosis is not difficult. However, in cases without situs inversus, the diagnosis is much more troublesome. PCD without situs inversus is thus probably underdiagnosed. Prolonged chronic cough represents an important symptom that is seen in most patients. The diagnosis of PCD requires the presence of the characteristic clinical phenotypes and either: (1) specific ciliary ultrastructural defects identified by transmission electron microscopy in biopsy samples of respiratory epithelium; or (2) identification of mutation in one of the genes known to be associated with PCD. Nasal nitric oxide concentration is extremely low in PCD, and this could be useful for screening of the disease. At present, no fundamental therapies are available for PCD. Diagnosis in the early stages is important to prevent progression of bronchiectasis and deterioration of lung function by guidance for daily life, immunization, cessation of smoking and prompt therapy at the time of respiratory tract infection. Since PCD is inherited in an autosomal-recessive manner, genetic counseling is necessary after definite diagnosis.
authors.affiliation: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan. Electronic address: kazuhiko@clin.medic.mie-u.ac.jp.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Takeuchi
authors.affiliation: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Masako
authors.initials: M
authors.lastname: Kitano
authors.affiliation: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Ishinaga
authors.affiliation: Department of Otorhinolaryngology, Head & Neck Surgery, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Masayoshi
authors.initials: M
authors.lastname: Kobayashi
authors.affiliation: Electron Microscopy Research Center, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Satoru
authors.initials: S
authors.lastname: Ogawa
authors.affiliation: Division of Personalized Medicine, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Kaname
authors.initials: K
authors.lastname: Nakatani
authors.affiliation: Department of Otorhinolaryngology, Mie National Hospital, Tsu, Japan.
authors.forename: Sawako
authors.initials: S
authors.lastname: Masuda
authors.affiliation: Institute for Clinical Research, Mie National Hospital, Tsu, Japan.
authors.forename: Mizuho
authors.initials: M
authors.lastname: Nagao
authors.affiliation: Institute for Clinical Research, Mie National Hospital, Tsu, Japan.
authors.forename: Takao
authors.initials: T
authors.lastname: Fujisawa
mesh_terms: D001987:Bronchiectasis / Q000209:etiology / Q000517:prevention & control; D002908:Chronic Disease; D061345:Early Medical Intervention; D005817:Genetic Counseling; D006801:Humans; D007246:Infertility / Q000209:etiology; D007619:Kartagener Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D046529:Microscopy, Electron, Transmission; D009154:Mutation; D009296:Nasal Cavity; D009569:Nitric Oxide / Q000032:analysis; D010033:Otitis Media / Q000188:drug therapy / Q000209:etiology; D020545:Respiratory Mucosa / Q000648:ultrastructure*; D012141:Respiratory Tract Infections / Q000188:drug therapy* / Q000209:etiology; D012220:Rhinitis / Q000188:drug therapy / Q000209:etiology; D012852:Sinusitis / Q000188:drug therapy / Q000209:etiology; D016540:Smoking Cessation; D014611:Vaccination
chemical_list: D009569:Nitric Oxide
keywords: Bronchiectasis; Chronic rhinosinusitis; Kartagener's syndrome; Nasal nitric oxide; Secretary otitis media