eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Symptom | C0013990|emphysema |
| Sentences | 12 |
| PubMedID- 22356581 | However, the development of copd and emphysema in subjects with aat deficiency is highly variable and is likely influenced by modifier genes and environmental factors . |
| PubMedID- 25301410 | Introduction: copd and emphysema due to alpha-1 antitrypsin deficiency (aatd) are the first and fourth indications for lung transplantation worldwide, respectively. |
| PubMedID- 22236390 | We report the outcome of bronchoscopic volume reduction with the insertion of emphasys endobronchial valves (emphasys medical, redwood city, ca, usa) in six patients with end-stage emphysema because of aat deficiency. |
| PubMedID- 24325216 | The most frequent pre transplant diagnoses were chronic obstructive pulmonary disease (copd) of 38%, idiopathic pulmonary fibrosis (ipf) of 20% and alpha-1 antitrypsin deficiency with emphysema (a1at) of 18%. |
| PubMedID- 22791992 | In this case, sjms represents an extreme example of focal emphysema in a patient with severe aat deficiency and diffuse obstructive lung disease. |
| PubMedID- 25378851 | alpha-1 antitrypsin deficiency is usually associated with concomitant emphysema and affects the lower lobes, whereas ntm infection has a predilection for middle lobe and lingula with nodular bronchiectasis and tree-in-bud appearance. |
| PubMedID- 24063809 | Background: intravenous augmentation therapy is the only specific treatment available for emphysema associated with alpha-1 antitrypsin deficiency. |
| PubMedID- 25741114 | Such a disease pattern is similar tothe emphysema described in patients with alpha-1 antitrypsin deficiency(42,44). |
| PubMedID- 24719685 | aat deficiency is associated with severe pulmonary emphysema and chronic obstructive pulmonary disease (copd) (3). |
| PubMedID- 23821504 | Less commonly encountered obstructive lung disorders for which transplantation is occasionally performed include emphysema due to alpha-1-antitrypsin deficiency, lymphangioleiomyomatosis, and langerhans cell histiocytosis. |
| PubMedID- 22365503 | Since the end of the 1980s augmentation therapy with alpha-1 antitrypsin (aat) from human plasma has been available for specific treatment of emphysema due to aat deficiency. |
| PubMedID- 25227936 | Conclusion: in carefully selected aat deficiency patients with severe emphysema, elvr can be safely performed with encouraging long-lasting results. |
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