Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience
Background. Alpha-1 antitrypsin deficiency (AATD) is of importance in the pathogenesis of pulmonary emphysema, chronic obstructive pulmonary diseases (COPD), and bronchiectasis. Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). This includes recurrent pulmo...
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Wiley
2020-01-01
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| Series: | Canadian Respiratory Journal |
| Online Access: | http://dx.doi.org/10.1155/2020/4019608 |
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| author | Georg Evers Arik Bernard Schulze Michael Thrull Jan-Philipp Hering Christoph Schülke Rainer Wiewrodt Helmut Wittkowski Lars Henning Schmidt Michael Mohr |
| author_facet | Georg Evers Arik Bernard Schulze Michael Thrull Jan-Philipp Hering Christoph Schülke Rainer Wiewrodt Helmut Wittkowski Lars Henning Schmidt Michael Mohr |
| author_sort | Georg Evers |
| collection | DOAJ |
| description | Background. Alpha-1 antitrypsin deficiency (AATD) is of importance in the pathogenesis of pulmonary emphysema, chronic obstructive pulmonary diseases (COPD), and bronchiectasis. Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). This includes recurrent pulmonary infections, immunodysregulation, and autoinflammatory diseases. As a result, incidence of acute and chronic pulmonary diseases is higher. Interestingly, pulmonary morbidity in PID and AATD share similar features. To study the coexistence of AATD in patients suffering from PID, we performed the underlying investigation. Methods. We evaluated a study group of 149 patients (n = 149) with PID. In total, serum AAT concentrations were available for 110 patients (n = 110). For the identified patients, we analyzed both clinical associations and interactions. Results. Among the investigated patients, reduced serum AAT levels were detected in 7 patients. With regard to the genotype, PI∗ZZ was found in 2 patients, whereas PI∗MZ was observed in 5 patients. Independent of the underlying phenotype, obstructive lung diseases were found in 2 patients with PI∗ZZ and 2 patients with PI∗MZ. Conclusions. In Germany, the estimated percentage for PI∗ZZ and PI∗MZ is 0.01% and 1.9%, respectively. As demonstrated, the ratio in our study group was even higher. We identified seven patients with AATD. Since AATD contributes to pulmonary morbidity in PID patients, systematic underdiagnosis of the coexistence might yield a strong clinical impact. Hence, AAT analysis should be offered to all patients with confirmed PID diagnoses. To strengthen this finding, we suggest the investigation of larger databases. |
| format | Article |
| id | doaj-art-15021b42cb1a44579bca1479544ed3a2 |
| institution | Kabale University |
| issn | 1198-2241 1916-7245 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Respiratory Journal |
| spelling | doaj-art-15021b42cb1a44579bca1479544ed3a22025-02-03T01:01:22ZengWileyCanadian Respiratory Journal1198-22411916-72452020-01-01202010.1155/2020/40196084019608Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center ExperienceGeorg Evers0Arik Bernard Schulze1Michael Thrull2Jan-Philipp Hering3Christoph Schülke4Rainer Wiewrodt5Helmut Wittkowski6Lars Henning Schmidt7Michael Mohr8Department of Medicine A, Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, GermanyDepartment of Medicine A, Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, GermanyDepartment of Medicine A, Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, GermanyDepartment of Clinical Radiology, University Hospital Muenster, Muenster, GermanyDepartment of Clinical Radiology, University Hospital Muenster, Muenster, GermanyDepartment of Medicine A, Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, GermanyDepartment of Pediatric Rheumatology and Immunology, University Hospital Muenster, Muenster, GermanyDepartment of Medicine A, Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, GermanyDepartment of Medicine A, Hematology, Oncology and Pneumology, University Hospital Muenster, Muenster, GermanyBackground. Alpha-1 antitrypsin deficiency (AATD) is of importance in the pathogenesis of pulmonary emphysema, chronic obstructive pulmonary diseases (COPD), and bronchiectasis. Various pulmonary disorders are a typical feature of primary immunodeficiency disease (PID). This includes recurrent pulmonary infections, immunodysregulation, and autoinflammatory diseases. As a result, incidence of acute and chronic pulmonary diseases is higher. Interestingly, pulmonary morbidity in PID and AATD share similar features. To study the coexistence of AATD in patients suffering from PID, we performed the underlying investigation. Methods. We evaluated a study group of 149 patients (n = 149) with PID. In total, serum AAT concentrations were available for 110 patients (n = 110). For the identified patients, we analyzed both clinical associations and interactions. Results. Among the investigated patients, reduced serum AAT levels were detected in 7 patients. With regard to the genotype, PI∗ZZ was found in 2 patients, whereas PI∗MZ was observed in 5 patients. Independent of the underlying phenotype, obstructive lung diseases were found in 2 patients with PI∗ZZ and 2 patients with PI∗MZ. Conclusions. In Germany, the estimated percentage for PI∗ZZ and PI∗MZ is 0.01% and 1.9%, respectively. As demonstrated, the ratio in our study group was even higher. We identified seven patients with AATD. Since AATD contributes to pulmonary morbidity in PID patients, systematic underdiagnosis of the coexistence might yield a strong clinical impact. Hence, AAT analysis should be offered to all patients with confirmed PID diagnoses. To strengthen this finding, we suggest the investigation of larger databases.http://dx.doi.org/10.1155/2020/4019608 |
| spellingShingle | Georg Evers Arik Bernard Schulze Michael Thrull Jan-Philipp Hering Christoph Schülke Rainer Wiewrodt Helmut Wittkowski Lars Henning Schmidt Michael Mohr Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience Canadian Respiratory Journal |
| title | Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience |
| title_full | Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience |
| title_fullStr | Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience |
| title_full_unstemmed | Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience |
| title_short | Alpha-1 Antitrypsin Deficiency and Pulmonary Morbidity in Patients with Primary Immunodeficiency Disease: A Single-Center Experience |
| title_sort | alpha 1 antitrypsin deficiency and pulmonary morbidity in patients with primary immunodeficiency disease a single center experience |
| url | http://dx.doi.org/10.1155/2020/4019608 |
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