Cystic fibrosis and alpha-1 antitrypsin deficiency: case report and review of literature

• Main Authors: Evi Jaspers (Author), Ine Van Dijck (Author), Ilse Hoffman (Author), Noël Knops (Author), Xavier Stéphenne (Author), Peter Witters (Author), Marijke Proesmans (Author)
• Format: Book
• Published: BMC, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background This case report describes a child born with both cystic fibrosis (CF) and alpha-1 antitrypsin deficiency (A1ATD). Both are autosomal recessive inherited diseases, mainly affecting the lungs and the liver. The combination of both diseases together is rare and may lead to a fulmin...