Details

Autor(en) / Beteiligte

• Hadchouel, Alice
• Drummond, David
• Abou Taam, Rola
• Lebourgeois, Muriel
• Delacourt, Christophe
• de Blic, Jacques

Titel

Alveolar proteinosis of genetic origins

Ist Teil von

• European respiratory review, 2020-12, Vol.29 (158), p.190187

Ort / Verlag

European Respiratory Society

Erscheinungsjahr

2020

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• 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.