title: [A case of primary ciliary dyskinesia who had been treated as asthma].
abstract: We report a case of 18-old girl with primary ciliary dyskinesia (PCD) who had been diagnosed as asthma. Since birth, she had presented with unexplained productive cough, sputum, rhinorrhea, and stridor with situs solitus. Her familial history was negative for PCD. At 2 years of age, ciliary beat frequency and beat pattern were normal. She was diagnosed as rhinosinusitis, chronic secretory otitis media. At 3 years of age, she was diagnosed as asthma because of wheezing not associated with respiratory infection. Various asthma medications were then administered, including DSCG, inhaled corticosteroids, and salmeterol, but varying responses to the treatment were noted. Spirometry revealed persistent severe small airway obstruction. Beta2 agonist reversibility was recognized by impulse oscillation system, not with FEV1. At age of 18, chest CT disclosed bronchiectasis, and nasal nitric oxide concentration was very low, 98 ppb and a diagnostic approach for PCD was performed. Electron microscopic analysis of nasal cilia demonstrated defects of the outer and inner dynein arms, and the diagnosis of PCD was made. Mutations in DNAH1 and DNAI1 genes were found. The diagnosis of PCD is often difficult in the absence of situs inversus totalis. Recurrent wheeze with chronic rhinosinusitis, chronic otitis media, and brochiectasis may warrant detailed investigations for PCD, especially with nasal NO measurement.
authors: Department of Pediatrics, Mie National Hospital and Electron Microscopy Research Center, Mie University. hosokik@mie-m.hosp.go.jp
authors: Koa
authors: K
authors: Hosoki
authors: Takao
authors: T
authors: Fujisawa
authors: Sawako
authors: S
authors: Masuda
authors: Satoko
authors: S
authors: Usui
authors: Hiroaki
authors: H
authors: Ito
authors: Mizuho
authors: M
authors: Nagao
authors: Akihiko
authors: A
authors: Terada
authors: Kousei
authors: K
authors: Iguchi
authors: Satoru
authors: S
authors: Ogawa
authors: Kaname
authors: K
authors: Nakatani
authors: Kazuhiko
authors: K
authors: Takeuchi
mesh_terms: D000293:Adolescent; D001249:Asthma / Q000175:diagnosis*; D002925:Ciliary Motility Disorders / Q000175:diagnosis*; D017831:Diagnosis, Dual (Psychiatry); D005260:Female; D006801:Humans