Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature
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 bas...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13256-023-04183-7 |
| _version_ | 1797636923098923008 |
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| author | Anna Annunziata Alessandra Di Perna Ilaria Ferrarotti Antonietta Coppola Maria Burricco Giuseppe Fiorentino |
| author_facet | Anna Annunziata Alessandra Di Perna Ilaria Ferrarotti Antonietta Coppola Maria Burricco Giuseppe Fiorentino |
| author_sort | Anna Annunziata |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T12:41:01Z |
| format | Article |
| id | doaj.art-bd03eaa0e9144cd89240f09854190636 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-03-11T12:41:01Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-bd03eaa0e9144cd89240f098541906362023-11-05T12:18:41ZengBMCJournal of Medical Case Reports1752-19472023-11-011711410.1186/s13256-023-04183-7Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literatureAnna Annunziata0Alessandra Di Perna1Ilaria Ferrarotti2Antonietta Coppola3Maria Burricco4Giuseppe Fiorentino5Unit of Pathophysiology and Respiratory Rehabilitation, Intensive Care Department, Monaldi HospitalUnit of PneumologyPneumology Unit, Department of Internal Medicine and Therapeutics, Center for Diagnosis of Inherited Alpha1-Antitrypsin Deficiency, IRCCS San Matteo Hospital Foundation, University of PaviaUnit of Pathophysiology and Respiratory Rehabilitation, Intensive Care Department, Monaldi HospitalUnit of PneumologyUnit of Pathophysiology and Respiratory Rehabilitation, Intensive Care Department, Monaldi HospitalAbstract 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.https://doi.org/10.1186/s13256-023-04183-7Alpha 1 antitrypsinLiver transplantLung disease |
| spellingShingle | Anna Annunziata Alessandra Di Perna Ilaria Ferrarotti Antonietta Coppola Maria Burricco Giuseppe Fiorentino Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature Journal of Medical Case Reports Alpha 1 antitrypsin Liver transplant Lung disease |
| title | Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature |
| title_full | Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature |
| title_fullStr | Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature |
| title_full_unstemmed | Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature |
| title_short | Transplant with MZ genotype liver: what is the clinical pulmonary picture after 30 years? a case report and review of the literature |
| title_sort | transplant with mz genotype liver what is the clinical pulmonary picture after 30 years a case report and review of the literature |
| topic | Alpha 1 antitrypsin Liver transplant Lung disease |
| url | https://doi.org/10.1186/s13256-023-04183-7 |
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