Familial alveolar proteinosis

: Pulmonary alveolar proteinosis is a progressive disease recognized 35 years ago. Many etiologies have been put forward, but the pathogenesis remains obscure. Familial alveolar proteinosis is a rare condition, probably transmitted by recessive autosomal inheritance, with deficiency in surfactant apoprotein SPB or defective expression of the common granulocyte colony stimulating factor (GM-CSF), IL3 and IL5 receptor. Gene therapy could be a future option for treatment in patients with specific gene defects.