Bibliographic Details
| Title: |
Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye |
| Authors: |
Dilek Karadoğan, Bettina Dreger, Lourdes Osaba, Enes Ahmetoğlu, Songül Özyurt, Bilge Yılmaz Kara, Nur Hürsoy, Tahsin Gökhan Telatar, Ünal Şahin |
| Source: |
BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-8 (2024) |
| Publisher Information: |
BMC, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Diseases of the respiratory system |
| Subject Terms: |
Alpha-1 antitrypsin deficiency, MPalermo, MMalton, COPD, Screening, Tobacco, Diseases of the respiratory system, RC705-779 |
| More Details: |
Abstract Background Alpha-1 antitrypsin deficiency (AATD) is associated with increased susceptibility to chronic obstructive pulmonary disease (COPD). AATD results from mutations in the SERPINA1 gene and over 500 rare mutations have been identified. Despite these findings and recommendations from major healthcare organizations, testing of COPD patients and their family members for AATD remains inadequate. Methods We examined genotypes and clinical characteristics of COPD patients (index cases; n = 14) treated at Recep Tayyip Erdoğan University Chest Diseases Department and their relatives (n = 17). Results When index cases were compared with screened relatives positive for AATD (n = 14), index cases were older and more predominantly male than screened relatives. Both groups had extensive smoking histories. All of the index cases and one of the screened relatives had been diagnosed with COPD. Clinical characterization of the COPD cases (14 index cases; 1 screened relative) showed that they had moderate to severe COPD with pre-treatment AAT levels of 0.59 ± 0.40 g/L (mean ± SD) and a COPD Assessment Test (CAT) score of 16.0 ± 8.12. The majority of these patients (73.3%) had panlobular emphysema. Five of the patients were treated with AAT augmentation which led to a decrease in the number of COPD exacerbations. Genotyping revealed that the most common rare allele identified in this population was MPalermo (c.227_229delTCT mutation on the M1(Val213) allelic background). Conclusions More testing and research need to be done to identify the relative prevalence of rare AATD variants. Earlier identification could lead to more effective treatment of affected individuals and improvement in their quality of life. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1471-2466 |
| Relation: |
https://doaj.org/toc/1471-2466 |
| DOI: |
10.1186/s12890-024-03421-y |
| Access URL: |
https://doaj.org/article/e4d5fe530aa24598b12f37612664eb53 |
| Accession Number: |
edsdoj.4d5fe530aa24598b12f37612664eb53 |
| Database: |
Directory of Open Access Journals |
