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α1-Antitrypsinmangel

Pathogenese, Klinik, Diagnostik und Therapie

Alpha-1 antitrypsin deficiency

Pathogenesis, clinical picture, diagnostic work-up, and treatment

  • Leitthema
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Zusammenfassung

Der α1-Antitrypsinmangel ist durch eine häufige, genetisch bedingte Störung verursacht. Die Diagnose ist durch die Bestimmung der α1-Antitrypsinkonzentration im Serum zu stellen. Die Erkrankung kann sich an der Lunge in Form einer chronisch obstruktiven Bronchitis mit Lungenemphysem (COPD) und an der Leber in Form einer chronischen Hepatitis mit Übergang zur Leberzirrhose manifestieren. Die Therapie der Lungenbeteiligung besteht aus antiobstruktiven und antiinflammatorischen Maßnahmen. Eine weitere Option ist die Substitution mit humanem, aus Spenderblut gewonnenem α1-Antitrypsin. Wichtigstes Therapieziel ist eine Verlangsamung der progredienten Verringerung der pulmonalen Leistungsfähigkeit.

Abstract

Alpha-1 antitrypsin deficiency is a common genetic disorder. The diagnosis can be established by determination of the serum alpha-1 antitrypsin concentration. Alpha-1 antitrypsin deficiency might affect the lungs, resulting in chronic obstructive pulmonary disease with emphysema (COPD), and/or the liver, producing chronic hepatitis and liver cirrhosis. Treatment of the pulmonary manifestations comprises anti-obstructive and anti-inflammatory drugs. An additional option is substitution therapy with human alpha-1 antitrypsin. Treatment targets are the prevention of the otherwise rapid decline of pulmonary function and exercise capacity.

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Interessenkonflikt

Der korrespondierende Autor weist auf eine Verbindung mit folgender Firma/Firmen hin: Beide Autoren erhalten Forschungs-Fördermittel der Firma Talecris Biotherapeutics Inc., USA.

Trotz des möglichen Interessenkonflikts ist der Beitrag unabhängig und produktneutral.

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  1. Abteilung Pneumologie, Medizinische Hochschule Hannover, Carl-Neuberg-Straße 1, 30625 , Hannover

    T. Köhnlein & T. Welte

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  1. T. Köhnlein
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  2. T. Welte
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Correspondence to T. Köhnlein.

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Köhnlein, T., Welte, T. α1-Antitrypsinmangel. Pneumologe 3, 340–348 (2006). https://doi.org/10.1007/s10405-006-0112-1

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