RT Journal Article
SR Electronic
T1 Alveolar proteinosis of genetic origins
JF European Respiratory Review
JO EUROPEAN RESPIRATORY REVIEW
FD European Respiratory Society
SP 190187
DO 10.1183/16000617.0187-2019
VO 29
IS 158
A1 Hadchouel, Alice
A1 Drummond, David
A1 Abou Taam, Rola
A1 Lebourgeois, Muriel
A1 Delacourt, Christophe
A1 de Blic, Jacques
YR 2020
UL http://err.ersjournals.com/content/29/158/190187.abstract
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