Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age

Abstract

Pulmonary alveolar proteinosis is a rare lung disease in which lipoproteinaceous material accumulates within the alveoli, interfering with gas exchange. The disease is classified into congenital, secondary, and acquired. The congenital form includes inborn errors of surfactant metabolism, lysinuric protein intolerance and mutations in the components of granulocyte-macrophage colony-stimulating factor receptor. The main symptoms are non-specific. The radiologic appearance of pulmonary alveolar proteinosis is bilateral, symmetric and perihilar airspace consolidation. Bronchoalveolar lavage is crucial for diagnosis of the disease. There is only one ten-year-old patient with diagnosed congenital form in Croatia. What makes him different from other children in the world is that since the ninth month of his life he has been mechanically ventilated. Diagnosis of postnatal alveolar proteinosis should be considered in every infant with respiratory distress with diffuse alveolar and interstitial infiltrate.

Autoimmune pulmonary alveolar proteinosis in an adolescent successfully treated with inhaled rhGM-CSF (molgramostim)

“…In neonates and children surfactant production disorders are most common and can lead to alveolar wall distortion and different degrees of accumulation of dysfunctional surfactant. The described mutations in the genes of the surfactant protein are for surfactant protein-B (SFTPB), surfactant protein-C (SFTPC), member A3 of the ATP-binding cassette family of transporters (ABCA3) and thyroid transcription factor 1 (NKX2–1) [ 3 , 9 , 10 ]. Mutations in the genes encoding the GM-CSF receptor (CSF2RA and CSF2RB) are also known [ 11 , 12 ], suggesting that PAP can be familiar.…”

Pulmonary Alveolar Proteinosis and Pregnancy: A Review of the Literature and Case Presentation

“…Congenital PAP is the least common form and is caused by a genetic mutation in GM-CSF receptor proteins or surfactant proteins [ 5 ]. It is inherited in either an autosomal dominant (AD), autosomal recessive (AR), or X-linked recessive order depending on the faulty gene [ 6 ]. The human receptor for granulocyte macrophage colony stimulating factor is composed of an alpha, which corresponds to CSF2RA, and a beta subunit, which corresponds to CSF2RB [ 5 ].…”