title: [Primary ciliary dyskinesia (Pcd) in Austria].
abstract: BACKGROUND
  Primary ciliary dyskinesia (PCD) is a rare hereditary recessive disease with symptoms of recurrent pneumonia, chronic bronchitis, bronchiectasis, and chronic sinusitis. Chronic rhinitis is often the presenting symptom in newborns and infants. Approximately half of the patients show visceral mirror image arrangements (situs inversus). In this study, we aimed 1) to determine the number of paediatric PCD patients in Austria, 2) to show the diagnostic and therapeutic modalities used in the clinical centres and 3) to describe symptoms of children with PCD.
  
  
  METHODS
  For the first two aims, we analysed data from a questionnaire survey of the European Respiratory Society (ERS) task force on Primary Ciliary Dyskinesia in children. All paediatric respiratory units in Austria received a questionnaire. Symptoms of PCD patients from Vienna Children's University Hospital (aim 3) were extracted from case histories.
  
  
  RESULTS
  In 13 Austrian clinics 48 patients with PCD (36 aged from 0-19 years) were identified. The prevalence of reported cases (aged 0-19 yrs) in Austria was 1:48000. Median age at diagnosis was 4.8 years (IQR 0.3-8.2), lower in children with situs inversus compared to those without (3.1 vs. 8.1 yrs, p = 0.067). In 2005-2006, the saccharine test was still the most commonly used screening test for PCD in Austria (45%). Confirmation of the diagnosis was usually by electron microscopy (73%). All clinics treated exacerbations immediately with antibiotics, 73% prescribed airway clearance therapy routinely to all patients. Other therapies and diagnostic tests were applied very inconsistently across Austrian hospitals. All PCD patients from Vienna (n = 13) had increased upper and lower respiratory secretions, most had recurring airway infections (n = 12), bronchiectasis (n = 7) and bronchitis (n = 7).
  
  
  CONCLUSIONS
  Diagnosis and therapy of PCD in Austria are inhomogeneous. Prospective studies are needed to learn more about the course of the disease and to evaluate benefits and harms of different treatment strategies.
authors.affiliation: Medizinische Universität Wien, Universitätsklinik für Kinder- und Jugendheilkunde, Wien, Austria.
authors.forename: Irena
authors.initials: I
authors.lastname: Lesic
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Maurer
authors.forename: Marie-Pierre F
authors.initials: MP
authors.lastname: Strippoli
authors.forename: Claudia E
authors.initials: CE
authors.lastname: Kuehni
authors.forename: Angelo
authors.initials: A
authors.lastname: Barbato
authors.forename: Thomas
authors.initials: T
authors.lastname: Frischer
mesh_terms: D000293:Adolescent; D001317:Austria / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D008297:Male; D010818:Practice Patterns, Physicians' / Q000706:statistics & numerical data*; D012307:Risk Factors; D011795:Surveys and Questionnaires; D055815:Young Adult