Alveolar proteinosis of genetic origins
| Autor: | Alice Hadchouel, David Drummond, Rola Abou Taam, Muriel Lebourgeois, Christophe Delacourt, Jacques de Blic |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | European Respiratory Review, Vol 29, Iss 158 (2020) |
| Druh dokumentu: | article |
| ISSN: | 0905-9180 1600-0617 16000617 |
| DOI: | 10.1183/16000617.0187-2019 |
| Popis: | Pulmonary alveolar proteinosis (PAP) is a rare form of chronic interstitial lung disease, characterised by the intra-alveolar accumulation of lipoproteinaceous material. Numerous conditions can lead to its development. Whereas the autoimmune type is the main cause in adults, genetic defects account for a large part of cases in infants and children. Even if associated extra-respiratory signs may guide the clinician during diagnostic work-up, next-generation sequencing panels represent an efficient diagnostic tool. Exome sequencing also allowed the discovery of new variants and genes involved in PAP. The aim of this article is to summarise our current knowledge of genetic causes of PAP. |
| Databáze: | Directory of Open Access Journals |
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