The Alpha 1 antitrypsin deficiency - etiology, symptoms in various organs, diagnosis, treatment, prognosis

• Main Authors: Dawid Kościołek (Author), Michał Urbaś (Author), Martyna Kępczyk (Author), Aleksandra Kościołek (Author), Kaja Surowiecka (Author), Jakub Misiak (Author), Miłosz Ojdana (Author), Konrad Szalbot (Author), Mikołaj Tokarski (Author), Natalia Marczak (Author)
• Format: Book
• Published: Kazimierz Wielki University, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Alpha-1 antitrypsin (AAT) is a glycoprotein produced by liver, belonging to the serine protease inhibitor family. Alpha-1 antitrypsin deficiency (AATD) is very common autosomal recessive genetic disease caused by point mutation in SERPINA1 gene. Mutations in the alpha-1 antitrypsin gen...