Der Pneumologe

, Volume 3, Issue 5, pp 325–339

Zystische Fibrose

  • T. O. Hirche
  • S. Loitsch
  • C. Smaczny
  • C. von Mallinckrodt
  • T. O. F. Wagner
Leitthema

Zusammenfassung

Die zystische Fibrose (CF, syn.: Mukoviszidose) ist ein Musterbeispiel dafür, wie neue Erkenntnisse über ein Krankheitsbild zu einer kontinuierlichen Verbesserung der Therapie und Prognose genutzt wurden. Dennoch liegt der klinische Schwerpunkt bisher auf einer symptomatischen Behandlung, und weiterhin versterben 80% der CF-Patienten an den Folgen respiratorischer Insuffizienz. Die vorliegende Übersicht stellt aktuelles Wissen über die genetischen und molekularbiologischen Grundlagen der Erkrankung vor. Der Übergang des CF-Basisdefekts in eine klinisch manifeste Lungenerkrankung wird ausführlich diskutiert. Weiterhin werden Diagnostik- und Therapiestandards der Patientenversorgung in einem spezialisierten CF-Zentrum sowie mögliche zukünftige Therapieansätze vorgestellt. Es besteht die Hoffnung, dass das in den vergangenen Jahren erworbene multiprofessionelle Wissen über die CF-Erkrankung synergistisch genutzt werden kann, um bestehende Behandlungskonzepte weiter zu verbessern und am Basisdefekt orientierte Therapien zu entwickeln.

Schlüsselwörter

Zystische Fibrose Mukoviszidose CFTR Pseudomonas aeruginosa Respiratorische Insuffizienz 

Cystic fibrosis

Abstract

Advances in knowledge and medical care of cystic fibrosis (CF) have resulted in a dramatic increase in life span and quality of life for this group of patients. Therapy remains, however, essentially symptomatic and the majority of patients faces premature death from respiratory failure. This review summarizes the current knowledge regarding the molecular basis of the CF gene and its product, CFTR. The pathways that link the malfunctioning of the CFTR protein with the observed pulmonary phenotype are discussed. State-of-the-art diagnostic and therapeutic standards performed in specialized German CF centers are introduced. There is hope that in the near future the accumulation of multiprofessional knowledge on CF disease will lead to improved therapeutic strategies, potentially targeting the basic defect.

Keywords

Cystic fibrosis CFTR Pseudomonas aeruginosa Respiratory failure 

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Copyright information

© Springer Medizin Verlag 2006

Authors and Affiliations

  • T. O. Hirche
    • 1
  • S. Loitsch
    • 1
  • C. Smaczny
    • 1
  • C. von Mallinckrodt
    • 1
  • T. O. F. Wagner
    • 1
  1. 1.Schwerpunkt: Pneumologie/AllergologieKlinikum der Johann Wolfgang Goethe-UniversitätFrankfurt am MainDeutschland

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