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Seltene Lungenerkrankungen pp 369–383Cite as

Alpha-1-Antitrypsin-Mangel

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Zusammenfassung

Der Alpha-1-Antitrypsin-Mangel (AATM) wird durch Mutationen im SERPINA1-Gen verursacht. Zu den wichtigsten Organmanifestationen gehören die chronisch obstruktive Lungenerkrankung (COPD) mit führendem Emphysemcharakter, die Leberzirrhose, die c-ANCA-positive Vaskulitis sowie die nekrotisierende Pannikulitis. Die häufigsten Defizienzallele sind Pi*Z und Pi*S (Pi: Proteinase-Inhibitor). Die Mehrzahl der betroffenen Patienten trägt den Genotyp Pi*ZZ. Für diesen Genotyp wird in Europa eine Häufigkeit von ca. 0,01–0,02% angenommen. Die adäquate Diagnostik des AATM ist mehrstufig und umfasst eine Kombination verschiedener Labormethoden. Hierbei kommen die Messung des Serumspiegels, die isoelektrische Fokussierung und die Bestimmung der Genotypen zur Anwendung. Die Behandlung des AATM entspricht in weiten Teilen der Behandlung der COPD. Darüber hinaus kann der Krankheitsverlauf der pulmonalen Manifestation durch eine Substitution des fehlenden Proteins (Augmentationstherapie) verlangsamt werden. In Endstadien kann eine Lungen- oder Lebertransplantation notwendig sein.

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Authors and Affiliations

  1. Klinik für Innere Medizin, Pneumologie, Universitätsklinikum Marburg, Baldingerstr., 35043, Marburg, Deutschland

    Dr. med. Timm Greulich

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  1. Dr. med. Timm Greulich
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Editors and Affiliations

  1. Pneumologie und Beatmungsmediz, Universitätsklinikum Heidelberg, Heidelberg, Baden-Württemberg, Germany

    Michael Kreuter

  2. Ruhrlandklinik, Universitätsklinikum Essen, Essen, Nordrhein-Westfalen, Germany

    Ulrich Costabel

  3. Universitätsklinikum Heidelberg, Heidelberg, Baden-Württemberg, Germany

    Felix Herth

  4. Zentrum für Pneumologie & Thoraxchir., LungenClinic Großhansdorf, Großhansdorf, Schleswig-Holstein, Germany

    Detlef Kirsten

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Greulich, T. (2016). Alpha-1-Antitrypsin-Mangel. In: Kreuter, M., Costabel, U., Herth, F., Kirsten, D. (eds) Seltene Lungenerkrankungen. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-48419-7_33

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