Monatsschrift Kinderheilkunde

, Volume 153, Issue 3, pp 255–261 | Cite as

Primäre Ziliendyskinesie

Diagnostik und Therapie
Leitthema: Chronische Bronchitis

Zusammenfassung

Unter Kindern mit chronischer Bronchitis ist die primäre Ziliendyskinesie (PCD) nicht selten. Die Diagnose wird jedoch oft erst im Schulalter gestellt. Dies mag daran liegen, dass ein sensitiver und spezifischer Einzeltest für diese Erkrankung nicht bekannt ist. Im diagnostischen Stufenschema kommt der gezielten Anamnese- und Befunderhebung eine zentrale Rolle zu. Bei den letztlich identifizierten PCD-Patienten findet sich ausnahmslos eine chronische Sekretretention in oberen und unteren Atemwegen, in der Regel schon ab den ersten Lebenstagen. Zur Bestätigung der Diagnose dienen aufwändige Analysen der Zilienfunktion und -struktur. In der Behandlung der PCD steht die Sekretelimination per Physiotherapie im Vordergrund. Bewährt haben sich die autogene Dränage und die regelmäßige Anwendung der Nasendusche. Der individuelle Nutzen von Antibiotika, DNase, Bronchodilatatoren und topischen Steroiden ist durch gezielte Therapieversuche zu ermitteln. Die Betreuung von PCD-Patienten in spezialisierten multidisziplinären Zentren empfiehlt sich.

Schlüsselwörter

Primäre Ziliendyskinesie Diagnostisches Stufenschema Sekretretention Autogene Dränage Nasendusche 

Primary ciliary dyskinesia

Diagnosis and therapy

Abstract

Primary ciliary dyskinesia (PCD) is not rare among children with chronic bronchitis. However, in many cases it is not diagnosed until the patients reach school age. One reason may be the lack of any single sensitive and specific test for it. A stepwise diagnostic approach must include purposeful elicitation of the history and examination, which are important to identify typical symptoms and signs. In each patient who is finally diagnosed with PCD mucus retention can be found in both the upper and the lower airways, in most cases even in the first days of life. The diagnosis should be confirmed by elaborate analyses of ciliary function and structure. In the treatment of PCD the role of physiotherapy to remove secretions from the airways is crucial. Autogenic drainage and the regular use of a nasal douche have proved effective. The individual response to antibiotics, DNase, bronchodilators and local steroids needs to be established by therapeutic trials. It is advisable for patients with PCD to be treated in specialist centres.

Keywords

Primary ciliary dyskinesia Stepwise diagnostic approach Mucus retention Autogenic drainage Nasal douche 

Literatur

  1. 1.
    Ellerman A, Bisgaard H (1997) Longituditinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 10:2376–2379Google Scholar
  2. 2.
    Bush A, O’Callagham C (2002) Primary ciliary dyskinesia. A nose for a diagnosis? Arch Dis Child 87:363–365Google Scholar
  3. 3.
    Nüßlein TG, Griese M, Nicolai T (2001) Ziliendiagnostik. Monatsschr Kinderheilkd 49:826–837Google Scholar
  4. 4.
    Jorissen M, Willems T (2000) Success rates of respiratory epithelial cell culture techniques with ciliogenesis for diagnosing primary ciliary dyskinesia. Acta Otorhinolaryngol Belg 54:357–365Google Scholar
  5. 5.
    Coren ME, Meeks M, Morrison I et al. (2002) Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 91:667–669Google Scholar
  6. 6.
    Noone PG, Leigh MW, Sannuti A et al. (2004) Primary ciliary dyskinesia. Diagnostic and phenotypic features. Am J Respir Crit Care Med 169:459–467Google Scholar
  7. 7.
    Karadag B, James AJ, Gültekin E et al. (1999) Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Eur Respir J 13:1402–1405Google Scholar
  8. 8.
    Wodehouse T, Kharitonov SA, Mackay IS et al. (2003) Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia. Eur Respir J 21:43–47Google Scholar
  9. 9.
    American Thoracic Society (1999) Recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide in adults and children—1999. Am J Respir Crit Care Med 160:2104–2117Google Scholar
  10. 10.
    Baraldi E, Jongste JC de (2002) Measurement of exhaled nitric oxide in children, 2001. Eur Respir J 20:223–237Google Scholar
  11. 11.
    Baraldi E, Pasquale MF, Cangiotti AM et al. (2004) Nasal nitric oxide is low in early life: case study of two infants with primary ciliary dyskinesia. Eur Respir J 24:881–883Google Scholar
  12. 12.
    Nuesslein TG, Hufnagel C, Stephan V et al. (2004) Yield of bronchial forceps biopsies in addition to nasal brushing for ciliary function analyses in children. Klin Padiatr 216:238–243Google Scholar
  13. 13.
    Bush A, Cole P, Hariri M et al. (1998) Primary ciliary dyskinesia. Diagnosis and standards of care. Eur Respir J 12:982–988Google Scholar
  14. 14.
    Meeks M, Bush A (2000) Primary cilia dyskinesia. Pediatr Pulmonol 29:307–316Google Scholar
  15. 15.
    Steinkamp G, Seithe H, Nüßlein T (2004) Therapie der Primären Ziliendyskinesie. Pneumologie 58:179–187Google Scholar
  16. 16.
    Boucher RC (2004) New concepts of the pathogenesis of cystic fibrosis lung disease. Eur Respir J 23:146–158Google Scholar
  17. 17.
    Shoseyov D, Bibi H, Shai P et al. (1998) Treatment with hypertonic saline versus normal saline nasal wash of pediatric chronic sinusitis. J Allergy Clin Immunol 101:602–605Google Scholar
  18. 18.
    Böllert FGE, Paton JY, Marshall TG et al. (1999) Recombinant DNase in cystic fibrosis: a protocol for targeted introduction through n-of-1 trials. Eur Respir J 13:107–113Google Scholar

Copyright information

© Springer Medizin Verlag 2005

Authors and Affiliations

  1. 1.Universitätskinderklinik Bochum
  2. 2.Universitätskinderklinik BochumBochum

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