Hereditary Pulmonary Alveolar Proteinosis (HPAP) is a rare condition associated with impairment of GM-CSF signaling.
Chromosomes and genes:
(1) almost all cases involve CSF2RA (colony stimulating factor 2 receptor subunit alpha), located on Xp2.33 and Yp11.2
(2) rare cases of CSF2RB, located on 22q12.3
Mutations in the CSF2RA/CSFR2B gene are associated with impaired GM-CSF dependent surfactant clearance by alveolar macrophages, resulting in accumulation of alveolar surfactant. As the disease progresses it is associated with hypoxic respiratory failure.
Inheritance: autosomal recessive
Most cases have a clinical onset during infancy or early children. Rarely elderly onset has been reported, possibly due to a compensatory action elsewhere.
Clinical and laboratory features are seen with secondary pulmonary alveolar proteinosis.
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