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The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis
In 1963, five cases of alpha1-antitrypsin deficiency were reported in the scientific literature, as well as an attempt to treat pulmonary alveolar proteinosis by a massive washing of the lung (whole lung lavage). Now, fifty years later, it seems the ideal moment not only to commemorate these publica...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849781/ https://www.ncbi.nlm.nih.gov/pubmed/24079310 http://dx.doi.org/10.1186/1750-1172-8-153 |
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author | Trapnell, Bruce C Luisetti, Maurizio |
author_facet | Trapnell, Bruce C Luisetti, Maurizio |
author_sort | Trapnell, Bruce C |
collection | PubMed |
description | In 1963, five cases of alpha1-antitrypsin deficiency were reported in the scientific literature, as well as an attempt to treat pulmonary alveolar proteinosis by a massive washing of the lung (whole lung lavage). Now, fifty years later, it seems the ideal moment not only to commemorate these publications, but also to point out the influence both papers had in the following decades and how knowledge on these two fascinating rare respiratory disorders progressed over the years. This paper is therefore not aimed at being a comprehensive review for both disorders, but rather at comparing the evolution of alpha1-antitrypsin, a rare disorder, with that of pulmonary alveolar proteinosis, an ultra-rare disease. We wanted to emphasize how all stakeholders might contribute to the dissemination of the awareness of rare diseases, that need to be chaperoned from the ghetto of neglected disorders to the dignity of recognizable and treatable disorders. |
format | Online Article Text |
id | pubmed-3849781 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-38497812013-12-05 The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis Trapnell, Bruce C Luisetti, Maurizio Orphanet J Rare Dis Letter to the Editor In 1963, five cases of alpha1-antitrypsin deficiency were reported in the scientific literature, as well as an attempt to treat pulmonary alveolar proteinosis by a massive washing of the lung (whole lung lavage). Now, fifty years later, it seems the ideal moment not only to commemorate these publications, but also to point out the influence both papers had in the following decades and how knowledge on these two fascinating rare respiratory disorders progressed over the years. This paper is therefore not aimed at being a comprehensive review for both disorders, but rather at comparing the evolution of alpha1-antitrypsin, a rare disorder, with that of pulmonary alveolar proteinosis, an ultra-rare disease. We wanted to emphasize how all stakeholders might contribute to the dissemination of the awareness of rare diseases, that need to be chaperoned from the ghetto of neglected disorders to the dignity of recognizable and treatable disorders. BioMed Central 2013-09-30 /pmc/articles/PMC3849781/ /pubmed/24079310 http://dx.doi.org/10.1186/1750-1172-8-153 Text en Copyright © 2013 Trapnell and Luisetti; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Letter to the Editor Trapnell, Bruce C Luisetti, Maurizio The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis |
title | The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis |
title_full | The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis |
title_fullStr | The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis |
title_full_unstemmed | The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis |
title_short | The parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis |
title_sort | parallel lives of alpha(1)-antitrypsin deficiency and pulmonary alveolar proteinosis |
topic | Letter to the Editor |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849781/ https://www.ncbi.nlm.nih.gov/pubmed/24079310 http://dx.doi.org/10.1186/1750-1172-8-153 |
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