Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma
Abstract Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-05-01
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| Series: | Respirology Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rcr2.936 |
| _version_ | 1818126841145196544 |
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| author | Marina Aiello Annalisa Frizzelli Laura Marchi Ilaria Ferrarotti Davide Piloni Giovanna Pelà Alessandro De Simoni Lorenzo D'Aloisio Luigino Calzetta Alfredo Chetta |
| author_facet | Marina Aiello Annalisa Frizzelli Laura Marchi Ilaria Ferrarotti Davide Piloni Giovanna Pelà Alessandro De Simoni Lorenzo D'Aloisio Luigino Calzetta Alfredo Chetta |
| author_sort | Marina Aiello |
| collection | DOAJ |
| description | Abstract Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italy |
| first_indexed | 2024-12-11T07:07:52Z |
| format | Article |
| id | doaj.art-8c708f6819a44c27b36cc866f5653568 |
| institution | Directory Open Access Journal |
| issn | 2051-3380 |
| language | English |
| last_indexed | 2024-12-11T07:07:52Z |
| publishDate | 2022-05-01 |
| publisher | Wiley |
| record_format | Article |
| series | Respirology Case Reports |
| spelling | doaj.art-8c708f6819a44c27b36cc866f56535682022-12-22T01:16:25ZengWileyRespirology Case Reports2051-33802022-05-01105n/an/a10.1002/rcr2.936Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parmaMarina Aiello0Annalisa Frizzelli1Laura Marchi2Ilaria Ferrarotti3Davide Piloni4Giovanna Pelà5Alessandro De Simoni6Lorenzo D'Aloisio7Luigino Calzetta8Alfredo Chetta9Department of Medicine and Surgery, Respiratory Disease and Lung Function Unit University of Parma Parma ItalyDepartment of Medicine and Surgery, Respiratory Disease and Lung Function Unit University of Parma Parma ItalyDepartment of Food and Drug University of Parma Parma ItalyCenter for the Diagnosis of Inherited Alpha1‐Antitrypsin Deficiency, Department of Internal Medicine and Therapeutics, Pneumology Unit University of Pavia Pavia ItalyUnit of Respiratory Diseases, Department of Medical Sciences and Infective Diseases IRCCS Policlinico San Matteo Foundation Pavia ItalyDepartment of Medicine and Surgery University of Parma Parma ItalyDepartment of Medicine and Surgery, Respiratory Disease and Lung Function Unit University of Parma Parma ItalyDepartment of Medicine and Surgery, Respiratory Disease and Lung Function Unit University of Parma Parma ItalyDepartment of Medicine and Surgery, Respiratory Disease and Lung Function Unit University of Parma Parma ItalyDepartment of Medicine and Surgery, Respiratory Disease and Lung Function Unit University of Parma Parma ItalyAbstract Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma variant identified for the first time in an Italian family originally from the city of Parma in Northern Italyhttps://doi.org/10.1002/rcr2.936alpha‐1 antitrypsin deficiencyclinical manifestationsgenotypevariant |
| spellingShingle | Marina Aiello Annalisa Frizzelli Laura Marchi Ilaria Ferrarotti Davide Piloni Giovanna Pelà Alessandro De Simoni Lorenzo D'Aloisio Luigino Calzetta Alfredo Chetta Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma Respirology Case Reports alpha‐1 antitrypsin deficiency clinical manifestations genotype variant |
| title | Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma |
| title_full | Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma |
| title_fullStr | Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma |
| title_full_unstemmed | Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma |
| title_short | Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma |
| title_sort | clinical manifestations of a new alpha 1 antitrypsin genetic variant q0parma |
| topic | alpha‐1 antitrypsin deficiency clinical manifestations genotype variant |
| url | https://doi.org/10.1002/rcr2.936 |
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