Zusammenfassung
Mukoviszidose ist eine autosomal-rezessiv vererbte Funktionsstörung der exokrinen Körperdrüsen und zählt zu den häufigsten lebensbedrohlichen Erbkrankheiten des Menschen (Welsh et al. 1995). Mit einer Inzidenz von etwa 1:2500 Lebendgebore nen ist sie insbesondere in der weißen Bevölkerung Europas und Nordamerikas verbreitet, sie wird jedoch auch in arabischen und asiatischen Volksgruppen sowie auf dem afrikanischen Kontinent gesehen. Historische Quellen enthalten bereits frühe Hinweise auf das Vorkommen von Mukoviszidose in Mitteleuropa, doch die ersten vollständigen Beschreibungen des Krankheitsbilds sind erst seit etwa 60 Jahren bekannt (Fanconi et al. 1936; Andersen 1938). Die häufigen fibrotischen Veränderungen der Bauchspeicheldrüse prägten zunächst die Bezeichnung „cystic fibrosis of the pancreas“, so daß im angelsächsischen Sprachraum der Name zystische Fibrose („cystic fibrosis“, CF) als Synonym für Mukoviszidose sehr gebräuchlich ist. Wir wollen im folgenden in kurzer Form auf die Symptome und Ursachen der Erkrankung eingehen. Einige Passagen unseres vorliegenden Beitrags sind einer früheren Veröffentlichung entnommen und überarbeitet worden (Dörk u. Stuhr mann 1996). Auf eine umfassende und weiterführende Darstellung der Mukoviszidose und ihrer klinischen und molekularbiologischen Grundlagen sei an dieser Stelle ebenfalls verwiesen (Welsh et al. 1995).
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Dörk, T., Stuhrmann, M. (2000). Mukoviszidose (Zystische Fibrose, CF). In: Ganten, D., Ruckpaul, K. (eds) Monogen bedingte Erbkrankheiten 1. Handbuch der Molekularen Medizin, vol 6. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-57043-8_7
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