Skip to main content
SpringerLink
Log in

Diagnostik bei zystischer Fibrose

Ein Update

Diagnostic workup for cystic fibrosis

An update

  • Pädiatrische Pneumologie
  • Published:
Der Pneumologe Aims and scope

Zusammenfassung

Die Diagnose der CF ist nur der erste Schritt zur effektiven Behandlung dieser auch heute noch mit einer deutlich erniedrigten Lebenserwartung einhergehenden Erkrankung. Obwohl die Diagnose oft eindeutig aufgrund klinischer Symptome und Schweißtest bzw. Genetik zu stellen ist, verbleiben fragliche Fälle. Hier ist der Einsatz elektrophysiologischer Methoden sinnvoll. Im weiteren Verlauf stellen sich zusätzliche diagnostische Fragen. Thorax-HRCT und MBW („multiple breath washout“)-Technik werden diskutiert, um frühzeitig strukturelle und funktionelle Lungenveränderungen zu erfassen. Screening hinsichtlich „CF-related diabetes mellitus“ und Knochendichteminderung ermöglicht eine Diagnose, noch bevor klinische Symptome klar erkennbar sind. Damit eröffnet sich die Chance auf eine effizientere Therapie. Eine bessere Erregerdiagnostik erwarten wir von den neuen Nachweisverfahren (Polymerasekettenreaktion und molekulare Methoden) z. B. für Pseudomonas aeruginosa. Insgesamt stehen mit den vorhandenen und sich abzeichnenden Diagnosetools weitere Möglichkeiten zur Therapieoptimierung bereit. Sie müssen auch genutzt werden.

Abstract

The diagnosis of CF is only the first step to an optimal treatment. CF is still a disease with a remarkable reduced life expectancy. In most case the diagnosis of CF is made by clinical symptoms, a positive sweat test and/or genetic testing indicative for CF. In the few remaining cases methods like NPD and/or ICM are indicated. During the course of disease other diagnostic tools are needed. Early pulmonary involvement can be detected by HRCT, which demonstrate structural changes in lung tissue and MBW which is a measurement of functional changes. The two most frequent co-morbidities (CFRD and reduced bone density) have no specific early clinical symptoms. Only screening offer the possibility for early diagnosis and treatment. The new non-culture methods for detection of bacteria like PSA offer the chance for an earlier identification of e.g. PSA in the respiratory tract and a more successful treatment. All together the established and oncoming diagnostic tools offer new chances for a more successful treatment of CF if they will be used.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Abb. 1
Abb. 2
Abb. 3

Literatur

  1. Ballmann M (2007) Diagnostik der Zystischen Fibrose. Pneumologe 4:261–266

    Article  Google Scholar 

  2. Ballmann M (2010) Mukovisziose und Diabetes. Diabetologe 6:16–22

    Article  Google Scholar 

  3. Bannier E, Cieslar K, Mosbah K et al (2010) Hyperpolarized 3He MR for sensitive imaging of ventilation function and treatment efficiency in young cystic fibrosis patients with normal lung function. Radiology 255:225–232

    Article  PubMed  Google Scholar 

  4. Bodini A, D’Orazio C, Peroni D et al (2005) Biomarkers of neutrophilic inflammation in exhaled air of cystic fibrosis children with bacterial airway infections. Pediatr Pulmonol 40:494–499

    Article  PubMed  Google Scholar 

  5. Jong PA de, Nakano Y, Lequin MH et al (2004) Progressive damage on high resolution computed tomography despite stable lung function in cystic fibrosis. Eur Respir J 23:93–97

    Article  PubMed  Google Scholar 

  6. Deschaght P, De Baere T, Van Simaey L et al (2009) Comparison of the sensitivity of culture, PCR and quantitative real-time PCR for the detection of Pseudomonas aeruginosa in sputum of cystic fibrosis patients. BMC Microbiol 9:244

    Article  PubMed  Google Scholar 

  7. Ellemunter H, Fuchs SI, Unsinn KM et al (2010) Sensitivity of lung clearance index and chest computed tomography in early cf lung disease. Respir Med 104:1834–1842

    Article  PubMed  Google Scholar 

  8. Fuchs SI, Eder J, Ellemunter H, Gappa M (2009) Lung clearance index: normal values, repeatability, and reproducibility in healthy children and adolescents. Pediatr Pulmonol 44:1180–1185

    Article  PubMed  Google Scholar 

  9. Gustafsson PM, Aurora P, Lindblad A (2003) Evaluation of ventilation maldistribution as an early indicator of lung disease in children with cystic fibrosis. Eur Respir J 22:972–979

    Article  CAS  PubMed  Google Scholar 

  10. Hoffman LR, Kulasekara HD, Emerson J et al (2009) Pseudomonas aeruginosa lasR mutants are associated with cystic fibrosis lung disease progression. J Cyst Fibros 8:66–70

    Article  CAS  PubMed  Google Scholar 

  11. Holl RW, Buck C, Babka C et al (2000) HbA1c is not recommended as a screening test for diabetes in cystic fibrosis. Diabetes care 23:126

    Article  CAS  PubMed  Google Scholar 

  12. Lucidi V, Bizzarri C, Alghisi F et al (2009) Bone and body composition analyzed by dual-energy X-ray absorptiometry (DXA) in clinical and nutritional evaluation of young patients with cystic fibrosis: a cross-sectional study. BMC Pediatr 9:61

    Article  PubMed  Google Scholar 

  13. Milla CE, Billings J, Moran A (2005) Diabetes is associated with dramatically decreased survival in female but not male subjects with cystic fibrosis. Diabetes Care 28:2141–2144

    Article  PubMed  Google Scholar 

  14. Milla CE, Warwick WJ, Moran A (2000) Trends in pulmonary function in patients with cystic fibrosis correlate with the degree of glucose intolerance at baseline. Am J Respir Crit Care Med 162:891–895

    CAS  PubMed  Google Scholar 

  15. Moran A, Dunitz J, Nathan B et al (2009) Cystic fibrosis-related diabetes: current trends in prevalence, incidence, and mortality. Diabetes Care 32:1626–1631

    Article  PubMed  Google Scholar 

  16. Moran A, Pekow P, Grover P et al (2009) Insulin therapy to improve BMI in cystic fibrosis-related diabetes without fasting hyperglycemia: results of the cystic fibrosis related diabetes therapy trial. Diabetes Care 32:1783–1788

    Article  CAS  PubMed  Google Scholar 

  17. Newport S, Amin N, Dozor AJ (2009) Exhaled breath condensate pH and ammonia in cystic fibrosis and response to treatment of acute pulmonary exacerbations. Pediatr Pulmonol 44:866–872

    Article  PubMed  Google Scholar 

  18. Puderbach M, Eichinger M (2010) The role of advanced imaging techniques in cystic fibrosis follow-up: Is there a place for MRI? Pediatr Radiol 40:844–849

    Article  PubMed  Google Scholar 

  19. Robertson J, Macdonald K (2010) Prevalence of bone loss in a population with cystic fibrosis. Br J Nurs 19:636–639

    PubMed  Google Scholar 

  20. Robroeks CM, Roozeboom MH, Jong PA de et al (2010) Structural lung changes, lung function, and non-invasive inflammatory markers in cystic fibrosis. Pediatr Allergy Immunol 21:493–500

    Article  PubMed  Google Scholar 

  21. Robroeks CM, Rosias PP, Vliet D van et al (2008) Biomarkers in exhaled breath condensate indicate presence and severity of cystic fibrosis in children. Pediatr Allergy Immunol 19:652–659

    PubMed  Google Scholar 

  22. Rosenecker J, Hofler R, Steinkamp G et al (2001) Diabetes mellitus in patients with cystic fibrosis: the impact of diabetes mellitus on pulmonary function and clinical outcome. Eur J Med Res 6:345–350

    CAS  PubMed  Google Scholar 

  23. Sermet-Gaudelus I, Castanet M, Retsch-Bogart G, Aris RM (2009) Update on cystic fibrosis-related bone disease: a special focus on children. Paediatr Respir Rev 10:134–142

    Article  PubMed  Google Scholar 

  24. Smazcny C (2007) Routine Untersuchungen bei CF-Patienten. In: Ballmann M, Smazcny C (Hrsg) CF Manual. UNI-Med, Bremen London Boston, S 25–28

  25. Spasenovski T, Carroll MP, Payne MS, Bruce KD (2009) Molecular analysis of diversity within the genus Pseudomonas in the lungs of cystic fibrosis patients. Diagn Microbiol Infect Dis 63:261–267

    Article  CAS  PubMed  Google Scholar 

  26. Stecenko AA, Moran A (2010) Update on cystic fibrosis-related diabetes. Curr Opin Pulm Med 16:611–615

    Article  PubMed  Google Scholar 

  27. Tiddens HA, Jong PA de (2007) Imaging and clinical trials in cystic fibrosis. Proc Am Thorac Soc 4:343–346

    Article  PubMed  Google Scholar 

Download references

Interessenkonflikt

Keine Angaben.

Author information

Authors and Affiliations

  1. Klinik für Kinder- und Jugendmedizin, Abteilung Pädiatrische Pneumologie, Ruhr-Universität Bochum im St Josef Hospital, Alexandrinenstr. 5, 44791, Bochum, Deutschland

    C. Koerner-Rettberg &  M. Ballmann

Authors
  1. C. Koerner-Rettberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. Ballmann
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. Ballmann.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Koerner-Rettberg, C., Ballmann, M. Diagnostik bei zystischer Fibrose. Pneumologe 8, 44–50 (2011). https://doi.org/10.1007/s10405-010-0473-3

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10405-010-0473-3

Schlüsselwörter

Keywords

Search

Navigation