Alveolar proteinosis is characterized by the accumulation of lipoprotein compounds in the alveoli, with pulmonary infiltrates and respiratory failure. Mutations in different genes have been identified in relation to hereditary cases. The congenital form is associated with mutations in genes involved in surfactant metabolism (SFTPB, SFTPC, ABCA3, NKX2-1, MARS, and SLC7A7), while mutations in genes that regulate the granulocyte-macrophage colony-stimulating factor (CSF2RA and CSF2RB) have been described in association with non-neonate infantile forms and inherited adult forms.
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