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DOI: 10.1055/s-0038-1629050
Alpha-1-Antitrypsin-Mangel
Alpha-1 antitrypsin deficiencyPublication History
Eingereicht am:
22 April 2009
angenommen am:
07 May 2009
Publication Date:
25 January 2018 (online)
Zusammenfassung
Der Alpha-1-Antitrypsin-Mangel ist eine auto-somal-kodominant vererbbare Krankheit mit einer Prävalenz von 1:2000–1:5000. Typische klinische Merkmale sind die frühzeitige Entwicklung einer chronisch obstruktiven Lungenerkrankung mit Lungenemphysem sowie unterschiedliche Lebererkrankungen. Wäh-rend die hepatische Beteiligung in der Regel schon im frühen Säuglingsalter symptomatisch wird, treten pulmonale Symptome typischerweise erst im Erwachsenenalter auf. Das Ausmaß und die Art der Organmanifestation variieren erheblich, Gen-/Umweltinteraktionen haben einen wesentlichen Einfluss auf den Krankheitsverlauf. Die Inhalation von Schadstoffen, insbesondere Zigarettenrauch, erhöht das Risiko einer pulmonalen Schädigung erheblich. Neben der strikten Schadstoffvermeidung und der Therapie der chronisch obstruktiven Lungenerkrankung wird zunehmend Alpha-1-Antitrypsin substituiert. Kontrovers wird noch die Frage diskutiert, wann mit der Substitution begonnen werden sollte. Wichtig wäre die Entwicklung sensitiver Untersuchungstechniken zur frühzeitigen Erkennung einer Lungenbeteiligung, um eine zielgerichtete Therapie einleiten zu können und somit den Progress der Erkrankung aufzuhalten.
Summary
Alpha-1 antitrypsin (AAT) deficiency is inherited as an autosomal co-dominant disorder that affects about one in 2000–5000 individuals. It is clinically characterised by liver disease and early onset emphysema. While hepatic dysfunction usually begins in early infancy, pulmonary symptoms typically appear in patients older than 35 years. The development of clinical symptoms of liver and lung disease in individuals with severe alpha-1 antitrypsin deficiency is highly variable. Gene/ environmental interactions, environmental influences, and modifier genes may be of great importance. In addition to the usual treatments for emphysema, infusion of purified AAT represents a specific treatment. Evidence suggests that this approach is safe, slows the decline of lung function, could reduce infection rates, and might enhance survival. However, uncertainty about the best time to start the therapy remains. New diagnostic tools to detect early signs of lung involvement are warranted to start a specific therapy in such patients.
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