MeSH

A PULMONARY ALVEOLI-filling disease, characterized by dense phospholipoproteinaceous deposits in the alveoli, cough, and DYSPNEA. This disease is often related to, congenital or acquired, impaired processing of PULMONARY SURFACTANTS by alveolar macrophages, a process dependent on GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR.

There are 3 clinically distinct forms of pulmonary alveolar proteinosis: hereditary (usually congenital), secondary, and acquired. The acquired form is the most common form, accounting for approximately 90% of cases. The mean age at diagnosis is 39 years and it is associated with smoking in 72% of cases. Secondary pulmonary alveolar proteinosis is associated with functional impairment or reduced numbers of alveolar MACROPHAGES, as occurs in some hematologic cancers, IMMUNOSUPPRESSION, inhalation of inorganic dust or toxic fumes, and certain infections. Congenital pulmonary alveolar proteinosis is a rare, severe, often fatal disorder of newborns associated with PULMONARY SURFACTANT metabolism dysfunction caused by mutations in genes involved in surfactant metabolism. OMIM: 610910

Date introduced: November 5, 2012

Date introduced: August 25, 2010

mutation in CSF2RA

Date introduced: November 5, 2012

aka SMDP2; mutations in SFTPC

Date introduced: November 5, 2012

aka SMDP3; mutations in ABCA3

Date introduced: November 5, 2012

aka SMDP1; mutations in SFTPB

Date introduced: November 5, 2012