Primary ciliary dyskinesia (Pcd) in Austria

• Type: Article in International Scientific Journal
• Date: 2009

Authors

Lesic, I (Author) Other; ERS Taskforce on Primary Ciliary Dyskinesia in children, I (Author) Other; Maurer, E (Author) Other; Strippoli, MF (Author) Other; Kuehni, CE (Author) Other; Barbato, A (Author) Other; Frischer, T (Author) Other; Inês Azevedo (Author) FMUP

Journal

Title: Wiener Klinische Wochenschrift

Vol. 121

Pages: 616-622

ISSN: 0043-5325

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 5 Citations

Other information

Authenticus ID: P-00M-8SG

DOI: 10.1007/s00508-009-1197-4

Abstract (EN): INTRODUCTION: 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. PATIENTS, MATERIAL AND 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). CONCLUSION: 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.

Language: German

Type (Professor's evaluation): Scientific

No. of pages: 7