| Autor: |
Anna Annunziata, Alessandra Di Perna, Ilaria Ferrarotti, Antonietta Coppola, Maria Burricco, Giuseppe Fiorentino |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-4 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1752-1947 |
| DOI: |
10.1186/s13256-023-04183-7 |
| Popis: |
Abstract Background Alpha-1 antitrypsin, also known as alpha1 proteinase inhibitor, is a protein 90% synthesized by hepatocytes. Alpha-1 antitrypsin deficiency should be suspected if patients have unexplained emphysema or liver disease in the absence of others recognized causes. The diagnosis is based on tests that measure the amount of the enzyme in the blood and confirm by molecular analysis. Case presentation We present the case of a man of Caucasian ethnicity, who started experiencing difficulty in breathing 20 years after liver transplantation. After about 30 years since transplantation, an intermediate alpha-1 antitrypsin deficiency is diagnosed with evidence of air trapping, pulmonary emphysema and bronchiectasis. Conclusion The presence of a Z-variant synthesized from the donor liver may have contribute to the onset of respiratory disease. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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