title: [Clinical characteristics of primary ciliary dyskinesia].
abstract: OBJECTIVE
  To analyze the clinical characteristics of primary ciliary dyskinesia(PCD) so as to improve the diagnostic level of this rarely seen disease.
  
  
  METHODS
  Ten patients with PCD were retrospectively reviewed, the medical history, symptoms, signs, lung CT or chest X-ray, rhino-sinus CT scan, nasal nitric oxide (NO) levels, nasal ciliary ultrastructure, DNAH5 and DNAH11 genetic mutation, as well as treatment outcome were analyzed.
  
  
  RESULTS
  All 10 patients had recurrent chronic sinusitis, otitis media, bronchitis/bronchiectasis since childhood. Nine cases with translocation of heart and big vessels were diagnosed as Kartagener syndrome. One woman was suffering from barrenness and one man sterility after marriage for long time without birth control. Nasal NO levels were significantly lower in 2 patients with PCD but it was almost normal in one patient. Ciliary ultrastructure investigated by transmission electron microscope were almost normal in 4 cases without missing of inner or outer dynein arms. Two cases taking exome capture sequencing showed that mutations happened in DNAH5 and DNAH11. Five subjects underwenting sanger sequencing on 6 common exon fragments of DNAH5 and DNAH11 did not show any abnormality. Ten cases took medication therapy, while 5 patients once underwent functional endoscope sinus surgery. All of the 10 patients had improvement of their symptoms and signs after treatment.
  
  
  CONCLUSIONS
  The PCD is so rare in clinic that it is easily misdiagnosed. Clinical characteristics, nasal NO levels, ciliary ultrastructure and genetic testing are significant for clinical diagnosis.
authors.affiliation: Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Yin
authors.initials: Y
authors.lastname: Bai
authors.affiliation: Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Shaohua
authors.initials: S
authors.lastname: You
authors.affiliation: Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Lingchao
authors.initials: L
authors.lastname: Ji
authors.affiliation: Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China.
authors.forename: Jingjie
authors.initials: J
authors.lastname: Jia
authors.affiliation: Department of Otorhinolaryngology Head Neck Surgery, People Liberation Army General Hospital, Beijing 100853, China. Email: wht301@263.net.
authors.forename: Hongtian
authors.initials: H
authors.lastname: Wang
mesh_terms: D000328:Adult; D056444:Axonemal Dyneins / Q000235:genetics; D002648:Child; D002923:Cilia / Q000648:ultrastructure*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009296:Nasal Cavity / Q000737:chemistry; D009569:Nitric Oxide / Q000032:analysis*; D012189:Retrospective Studies
chemical_list: D009569:Nitric Oxide; D056444:Axonemal Dyneins; C465433:DNAH11 protein, human; C497507:DNAH5 protein, human