Alveolar proteinosis of genetic origins

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...

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Bibliographic Details
Published in:European respiratory review 2020-12, Vol.29 (158), p.190187
Main Authors: Hadchouel, Alice, Drummond, David, Abou Taam, Rola, Lebourgeois, Muriel, Delacourt, Christophe, de Blic, Jacques
Format: Article
Language:English
Subjects:
Human health and pathology
Life Sciences
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Summary: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.
ISSN:0905-9180
1600-0617
DOI:10.1183/16000617.0187-2019