Genetische Krankheiten mit pulmonaler Manifestation

  • B. Tümmler
  • G. Steinkamp
  • M. Götz
  • D. Staab
  • B. Niggemann
  • K. Paul

Zusammenfassung

Die Mukoviszidose, auch zystische Fibrose (CF) genannt, beruht auf einer generalisierten Störung des sekretorischen Epithels aller exokrinen Drüsen. Diese häufigste schwere genetische Erkrankung europäischer Populationen mit autosomal rezessivem Erbgang wird durch Mutationen im „Cystic Fibrosis Membrane Conductance Regulator“ (CFTR)-Gen ausgelöst. Der Basisdefekt des gestörten Wasser- und Salztransports führt zu schweren Sekundärveränderungen an Pankreas, Darm, Leber, Gallenwegen, Reproduktions- und Respirationstrakt, die das klinische Krankheitsbild prägen. Die pulmonalen Manifestationen bestimmen bei der Mehrzahl der Patienten Verlauf und Prognose der Mukoviszidose. Chronische Entzündungen, die v. a. von den bakteriellen Erregern Staphylococcus aureus, Pseudomonas aeruginosa und Burkholderia cepacia unterhalten werden, führen zu Defektheilungen und Umbau des Lungengewebes, die final in die respiratorische Insuffizienz münden. Die zeit- und kostenaufwendigen lebenslangen Therapieprogramme haben die Lebensqualität und -erwartung der Patienten mit Mukoviszidose in den letzten 30 Jahren kontinuierlich verbessert. Die mittlere Überlebenszeit betrug 1996 ca. 30 Jahre.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • B. Tümmler
  • G. Steinkamp
  • M. Götz
  • D. Staab
  • B. Niggemann
  • K. Paul

There are no affiliations available

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