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Clinical characterization of a novel alpha1-antitrypsin null variant: PiQ0Heidelberg
- Source :
- Respiratory Medicine Case Reports, Vol 35, Iss , Pp 101570- (2022)
- Publication Year :
- 2022
- Publisher :
- Elsevier, 2022.
-
Abstract
- The clinical characterization of a null variant of SERPINA1 – PiQ0Heidelberg – resulting in alpha1-antitrypsin (AAT) deficiency is described. This rare mutation (c.-5+5 G > A) has been previously identified but not clinically described. The 77 year-old female patient had GOLD-3, Group B COPD, severe destructive panlobular emphysema and newly observed respiratory failure on exertion at the time the genetic analysis was performed. Serum AAT level was 0.1 g/L (reference 0.9–2.0 g/L). Isoelectric focusing showed only the Z-protein indicating that this was a null mutation. The patient has started AAT replacement. Early screening and identification of AAT deficiency would allow for earlier intervention.
Details
- Language :
- English
- ISSN :
- 22130071
- Volume :
- 35
- Issue :
- 101570-
- Database :
- Directory of Open Access Journals
- Journal :
- Respiratory Medicine Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.0aa583a6318410d8e1ca5d615a31f1c
- Document Type :
- article
- Full Text :
- https://doi.org/10.1016/j.rmcr.2021.101570