Genetische Ursache einer COPD
Alpha-1-Antitrypsin-Mangel: Pathophysiologie, Diagnostik und Therapie
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Zusammenfassung
Die chronisch obstruktive Lungenerkrankung (COPD) ist eine durch inhalative Noxen hervorgerufene chronische Erkrankung, deren Phänotyp neben Umwelteinflüssen auch durch genetische Ursachen wie einem Alpha-1-Antitrypsin(AAT)-Mangel beeinflusst wird, eine Genotypisierung kann mittels Polymerasekettenreaktion und Sequenzierung erfolgen. Um eine Progression der Erkrankung zu verlangsamen, kann AAT substituiert werden.
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