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α1-Antitrypsinmangel

α1-antitrypsin deficiency

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Zusammenfassung

Der α1-Antitrypsinmangel bezeichnet eine Erkrankung, welche durch eine verminderte Serumkonzentration der wichtigsten Antiprotease des Menschen gekennzeichnet ist. Sie zählt zu den häufigsten Erbkrankheiten der weißen Bevölkerung. Bei etwa 2% aller Patienten mit chronisch obstruktiver Atemwegserkrankung und Lungenemphysem besteht ursächlich ein α1-Antitrypsinmangel. Im mittleren Lebensalter entwickelt sich bei vielen homozygot Betroffenen ein progredientes, basal betontes Lungenemphysem. Die typischen Symptome sind die der chronisch obstruktiven Bronchitis wie Husten, Auswurf und zunehmende Dyspnoe. Bei homozygot Betroffenen kommt es häufig in der Neonatalperiode zu einer cholestatischen Hepatitis. Im Erwachsenenalter entwickelt sich aber nur bei wenigen Betroffenen eine chronische Lebererkrankung bis hin zur Zirrhose mit erhöhtem Risiko für maligne Lebertumoren. Die frühzeitige Erkennung des α1-Antitrypsinmangels ist entscheidend zur Einleitung präventiver und therapeutischer Maßnahmen. Eine Nikotinabstinenz und Vermeidung von Lebernoxen ist obligat. Die pneumologische Therapie umfasst Physiotherapie, antiobstruktive und antiinflammatorische Medikation, Substitution mit humanem α1-Antitrypsin und operative Therapieverfahren inklusive der Lungentransplantation. Im Bereich der Leber besteht, abgesehen von experimentellen Therapieansätzen, die einzige Therapiemöglichkeit in der Lebertransplantation.

Abstract

α1-antitrypsin deficiency is characterized by a pathologic reduction of the serum concentration of α1-antitrypsin, the most important antiprotease in man. It is one of the most common hereditary diseases in Caucasians. Approximately 2% of obstructive airway diseases are caused by α1-antitrypsin deficiency. Patients above 35 years may develop lung emphysema, especially in the lower lobes. Symptoms are those of chronic obstructive pulmonary disease such as cough, sputum expectoration, and progressive dyspnoea. Patients with homozygous defect often develop cholestatic hepatitis in the neonatal period. However, only few adult patients develop chronic liver disease up to liver cirrhosis with an elevated risk for malignant liver tumors. The diagnostic hallmark is the reduced serum concentration of α1-antitrypsin while genetic testing proves the defect. An early recognition of the disease is decisive for prophylactic and therapeutic measures. Smoking should be stopped immediately. Treatment of lung disease includes physiotherapy, antiobstructive and antiinflammatory medication, augmentation with human α1-antitrypsin and lung surgery including lung transplantation. Liver toxins should be avoided. Besides experimental therapeutic approaches, liver disease can only be treated by liver transplantation.

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Authors and Affiliations

  1. Klinik für Pneumologie, Medizinische Hochschule Hannover, Hannover, Deutschland

    T. Köhnlein

  2. Klinik für Gastroenterologie, Hepatologie & Endokrinologie, Medizinische Hochschule Hannover, Carl Neuberg Straße 1, 30625, Hannover, Deutschland

    K. Rifai

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Köhnlein, T., Rifai, K. α1-Antitrypsinmangel. Internist 51 (Suppl 1), 269–276 (2010). https://doi.org/10.1007/s00108-009-2505-9

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