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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Karadoğan, Dilek Şahin, Ünal Dreger, Bettina Grandoso, Laura Osaba, Lourdes |
| 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, Q0RİZE. 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 panacinar emphysema with prominent air entrapment, atelectasis, and localized bronchiectasis. Serum AAT was < 0.27 g/L (below detection limit). Genetic analysis showed homozygous deletion of exons I to III. Conclusions Although many SERPINA1 variants have been identified, variants with large deletions and identified in a homozygous individual, as seen in this case with Q0RIZE, are uncommon. AATD is an underdiagnosed and undertreated disease. Wider screening of COPD patients could result in earlier diagnosis and treatment that could preserve lung function. |
| Related Links | https://bmcpulmmed.biomedcentral.com/counter/pdf/10.1186/s12890-024-02900-6.pdf |
| Ending Page | 8 |
| Page Count | 8 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712466 |
| DOI | 10.1186/s12890-024-02900-6 |
| Journal | BMC Pulmonary Medicine |
| Issue Number | 1 |
| Volume Number | 24 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2024-02-21 |
| Access Restriction | Open |
| Subject Keyword | Pneumology Respiratory System Internal Medicine Intensive Critical Care Medicine SERPINA1 Emphysema Alpha1-antitrypsin Alpha1-antitrypsin deficiency Pneumology/Respiratory System |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Pulmonary and Respiratory Medicine |
| Journal Impact Factor | 2.6/2023 |
| 5-Year Journal Impact Factor | 3/2023 |
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