PT  - JOURNAL ARTICLE
AU  - Alice Hadchouel
AU  - David Drummond
AU  - Rola Abou Taam
AU  - Muriel Lebourgeois
AU  - Christophe Delacourt
AU  - Jacques de Blic
TI  - Alveolar proteinosis of genetic origins
AID  - 10.1183/16000617.0187-2019
DP  - 2020 Dec 31
TA  - European Respiratory Review
PG  - 190187
VI  - 29
IP  - 158
4099  - http://err.ersjournals.com/content/29/158/190187.short
4100  - http://err.ersjournals.com/content/29/158/190187.full
SO  - EUROPEAN RESPIRATORY REVIEW2020 Dec 31; 29
AB  - 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.Genetic PAP occurs in young children and is often associated with a poor prognosis. Next-generation sequencing panels represent an efficient diagnostic tool. Promising treatments are currently being developed for some specific entities. https://bit.ly/2TRsJd1