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Alpha-1-Antitrypsinmangel

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Praxis der Hepatologie

Zusammenfassung

Alpha-1-Antitrypsinmangel (A1AT-Mangel) bezeichnet eine autosomal kodominant vererbte genetische Erkrankung, die sich in der verminderten Produktion von Alpha-1-Antitrypsin (Alpha-1- Proteinaseninhibitor) äußert. Ein Mangel an Alpha-1-Antitrypsin führt in der Lunge zu einem Überwiegen der Proteasenaktivität und damit zu einer kontinuierlichen Gewebeschädigung. In der Leber werden unvollständig synthetisierte Alpha- 1-Antitrypsinmoleküle in den Hepatozyten akkumuliert, wodurch ein vorzeitiger Untergang von Leberzellen ausgelöst werden kann.

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Literatur

  • American Thoracic Society, European Respiratory Society (2003) American Thoracic Society/European Respiratory Society statement 2003: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 168(7):818–900

    Article  Google Scholar 

  • Bakker ME et al (2008) Assessment of regional progression of pulmonary emphysema with CT densitometry. Chest 134(5):931–937

    Article  PubMed  Google Scholar 

  • Barker AF et al (1994) Replacement therapy for hereditary alpha1-antitrypsin deficiency. A program for long-term administration. Chest 105(5):1406–1410

    Article  PubMed  CAS  Google Scholar 

  • Brantly ML et al (1991) Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin phenotypes. Chest 100(3):703–708

    Article  PubMed  CAS  Google Scholar 

  • Carrell RW, Lomas DA (2002) Alpha1-antitrypsin deficiency–a model for conformational diseases. N Engl J Med 346(1):45–53

    Article  PubMed  CAS  Google Scholar 

  • DeMeo DL et al (2007) Determinants of airflow obstruction in severe alpha-1-antitrypsin deficiency. Thorax 62(9):806–813

    Article  PubMed  PubMed Central  Google Scholar 

  • DeMeo DL, Silverman EK (2004) Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 59(3):259–264

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Dirksen A et al (2009) Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J 33 (6):1345–1353

    Article  PubMed  CAS  Google Scholar 

  • Fischer HP et al (2000) Chronic liver disease in heterozygous alpha1-antitrypsin deficiency PiZ. J Hepatol 33(6):883–892

    Article  PubMed  CAS  Google Scholar 

  • Gadek JE, Pacht ER (1990) The protease-antiprotease balance within the human lung: implications for the pathogenesis of emphysema. Lung 168 (Suppl):552–564

    Article  PubMed  CAS  Google Scholar 

  • Geraminejad P et al (2004) Alpha-1-antitrypsin associated panniculitis: the MS variant. J Am Acad Dermatol 51(4):645–655

    Article  PubMed  Google Scholar 

  • Graf HJ, Konietzko N (1992) Substitutionstherapie bei schwerem Alpha-1 Proteasen Inhibitor-Mangel und Lungenemphysem. Dtsch Arztebl 89(33): 2701–2703

    Google Scholar 

  • Holme J, Stockley RA (2009) CT scan appearance, densitometry, and health status in protease inhibitor SZ alpha1-antitrypsin deficiency. Chest 136(5): 1284–1290

    Article  PubMed  Google Scholar 

  • Hood JM et al (1980) Liver transplantation for advanced liver disease with alpha-1-antitrypsin deficiency. N Engl J Med 302(5):272–275

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Hubbard RC, Crystal RG (1988) Alpha-1-antitrypsin augmentation therapy for alpha-1-antitrypsin deficiency. Am J Med 84(6A):52–62

    Article  PubMed  CAS  Google Scholar 

  • Hubbard R, Crystal RG (1991) Antiproteases. In: The Lung, Scientific Foundations, Bd 2. Raven Press, New York, S 1775–1787

    Google Scholar 

  • Janus ED, Phillips NT, Carrell RW (1985) Smoking, lung function, and alpha 1-antitrypsin deficiency. Lancet 1(8421):152–154

    Article  PubMed  CAS  Google Scholar 

  • Köhnlein T, Klein H, Welte T (1999) Alpha 1-protease inhibitor deficiency. Diagnosis, follow-up and therapy options. Medizinische Klinik (Munich, Germany?: 1983) 94(7):371–376

    Article  Google Scholar 

  • Köhnlein T, Janciauskiene S, Welte T (2010) Diagnostic delay and clinical modifiers in alpha-1 antitrypsin deficiency. Ther Adv Respir Dis 4(5):279–287

    Article  PubMed  Google Scholar 

  • Konietzko N (1995) Therapeutische Strategien bei a1-Proteaseninhibitormangel. Intensivmed 32:261–265

    Google Scholar 

  • Larsson C (1978) Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta medica Scandinavica 204(5):345–351

    CAS  Google Scholar 

  • Morse JO (1978) Alpha1-antitrypsin deficiency (first of two parts). N Engl J Med 299(19):1045–1048

    Article  PubMed  CAS  Google Scholar 

  • Parr DG et al (2004) Pattern of emphysema distribution in alpha1-antitrypsin deficiency influences lung function impairment. Am J Respir Crit Care Med 170(11): 1172–1178

    Article  PubMed  Google Scholar 

  • Peitz U, Röcken C (2003) Lebererkrankung bei Alpha-1 Antitrypsin-Mangel. In: Köhnlein T, Welte T (Hrsg): Alpha-1 Antitrypsin-Mangel. Referenz für Klinik und Praxis. Bremen, Unimed, S 40–45

    Google Scholar 

  • Perlmutter DH (1995) Clinical manifestations of alpha 1-antitrypsin deficiency. Gastroenterol Clin N Am 24(1):27–43

    CAS  Google Scholar 

  • Sandhaus RA (2004) Alpha1-Antitrypsin deficiency. 6: new and emerging treatments for alpha1-antitrypsin deficiency. Thorax 59(10):904–909

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Seersholm N, Dirksen A, Kok-Jensen A (1994) Airways obstruction and two year survival in patients with severe alpha 1-antitrypsin deficiency. Eur Respir J 7(11):1985–1987

    PubMed  CAS  Google Scholar 

  • Seersholm N et al (1997) Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) Alpha1-AT study group. Eur Respir J 10(10):2260–2263

    Article  PubMed  CAS  Google Scholar 

  • Seersholm N, Kok-Jensen A (1998) Clinical features and prognosis of life time non-smokers with severe alpha 1-antitrypsin deficiency. Thorax 53(4):265–268

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  • Stoller JK, Sandhaus RA et al (2005a) Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem. Chest 128(4):1989–1994

    Article  PubMed  CAS  Google Scholar 

  • Stoller JK, Tomashefski J et al (2005b) Mortality in individuals with severe deficiency of alpha1-antitrypsin: findings from the National Heart, Lung, and Blood Institute Registry. Chest 127(4):1196–1204

    PubMed  CAS  Google Scholar 

  • Stoller JK et al (2007) Lung volume reduction surgery in patients with emphysema and alpha-1 antitrypsin deficiency. Ann Thorac Surg 83(1):241–251

    Article  PubMed  Google Scholar 

  • The Alpha 1-Antitrypsin Deficiency Registry Study Group (1994) A registry of patients with severe deficiency of alpha 1-antitrypsin. Design and methods. Chest 106 (4):1223–1232

    Article  Google Scholar 

  • Valenti L et al (2006) Alpha 1-antitrypsin mutations in NAFLD: high prevalence and association with altered iron metabolism but not with liver damage. Hepatology (Baltimore, Md) 44(4):857–864

    Article  CAS  Google Scholar 

  • Van Steenbergen W (1993) Alpha 1-antitrypsin deficiency: an overview. Acta clinica Belgica 48(3):171–189

    PubMed  Google Scholar 

  • WenckerMet al (2001) Longitudinal follow-up of patients with alpha(1)-protease inhibitor deficiency before and during therapy with IV alpha(1)-protease inhibitor. Chest 119(3):737–744

    Article  Google Scholar 

  • Zhou H et al (2000) Is heterozygous alpha-1-antitrypsin deficiency type PIZ a risk factor for primary liver carcinoma? Cancer 88(12):2668–2676

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. Klinik für Gastroenterologie, Hepatologie und Endokrinologie, Zentrum Innere Medizin, Medizinische Hochschule Hannover, Hannover, Deutschland

    Christoph Höner zu Siederdissen

  2. Klinikum St. Georg, Leipzig, Deutschland

    Thomas Köhnlein

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  1. Christoph Höner zu Siederdissen
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  2. Thomas Köhnlein
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Correspondence to Christoph Höner zu Siederdissen .

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Editors and Affiliations

  1. Abt. Gastroenterologie Hepatologie und Endokrinologie Medizinische Hochschule Hannover (MHH), Zentrum Innere Medizin, Hannover, Deutschland

    Michael P. Manns

  2. Klinik für Gastroenterologie Hepatologie und Endokrinologie, Medizinische Hochschule Hannover, Hannover, Deutschland

    Sabine Schneidewind

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zu Siederdissen, C., Köhnlein, T. (2016). Alpha-1-Antitrypsinmangel. In: Manns, M., Schneidewind, S. (eds) Praxis der Hepatologie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-41620-0_24

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  • DOI: https://doi.org/10.1007/978-3-642-41620-0_24

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-41619-4

  • Online ISBN: 978-3-642-41620-0

  • eBook Packages: Medicine (German Language)

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