Case report of a novel alpha1-antitrypsin null variant in Turkiye: Q0_RIZE.

ABSTRACT:

Background

Alpha1-antitrypsin (AAT) is a serine protease inhibitor that serves as a counterbalance to the activity of elastases, e.g., neutrophil elastase in lung tissue. AAT deficiency (AATD) is a rare disorder usually arising from mutations to the SERPINA1 gene that codes for AAT. The most common AATD alleles are S and Z which produce ~ 40% and ~ 90% reductions in serum AAT, respectively. Rare genetic variants (> 500 identified) can also be associated with mild to severe AATD.

Results

This report describes a novel mutation of SERPINA1 producing AATD, which we have designated, Q0_RİZE. This mutation was identified in a 44-year-old woman admitted with massive hemoptysis and treated with bronchial artery embolization. Computed tomography revealed centriacinar and pa

SUBMITTER: Karadogan D 

PROVIDER: S-EPMC10882785 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature