title: [Primary ciliary dyskinesia--importance of early diagnosis].
abstract: BACKGROUND
  Primary ciliary dyskinesia (PCD) is an inherited disease characterized by specific ultrastructural defects of cilia and sperms. The impairment of mucociliary clearance (MCC) results in chronic respiratory infections and subsequently in bronchiectasis.
  
  
  OBJECTIVE
  The evaluate rational decisions in early diagnosis of PCD.
  
  
  METHODS
  Samples of nasal mucosa or tissue of tonsilla pharyngea after adenotomy were studied by transmission electron microscopy (TEM) in 47 patients aged 1-15 years, suffering from recurrent or chronic respiratory infections.
  
  
  RESULTS
  Congenital ultrastructural ciliary defects specific for PCD--the lack of dynein arms, radial spokes defects and microtubular transposition--were observed in 13 patients. TEM investigation is an expansive, time consuming method not available in routine practice. Therefore we have evaluated a diagnostic procedure which uses available examination methods focused on the diagnoses of PCD. TEM of respiratory cilia is indicated in patients with situs viscerum solitus if chronic respiratory disease develops and after more frequent causes--asthma, cystic fibrosis, congenital anomalies of respiratory system and immunodeficiency had been excluded.
  
  
  CONCLUSIONS
  The correct and early diagnosis is important for effective therapy in order to improve MCC. This approach can prevent the development of bronchiectasis during childhood.
authors.affiliation: II. detská klinika LFUK a DFN v Bratislave.
authors.forename: A
authors.initials: A
authors.lastname: Kapellerova
authors.forename: P
authors.initials: P
authors.lastname: Mraz
authors.forename: K
authors.initials: K
authors.lastname: Kapeller
authors.forename: J
authors.initials: J
authors.lastname: Polonyi
authors.forename: D
authors.initials: D
authors.lastname: Hornacek
authors.forename: I
authors.initials: I
authors.lastname: Klacansky
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007223:Infant; D008854:Microscopy, Electron; D009297:Nasal Mucosa / Q000648:ultrastructure; D014066:Palatine Tonsil / Q000648:ultrastructure