Congenital Pulmonary Alveolar Proteinosis: From Birth to Ten-years of Age
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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.
KeywordsCongenital alveolar proteinosis Treatment Pulmonary lavage Surfactant
Congenital alveolar proteinosis
Pulmonary alveolar proteinosis
Respiratory distress syndrome
Intensive care unit
Ethylene-diamine tetraacetic acid (edetic acid)
Synchronized intermittent mandatory ventilation
Continuous positive airway pressure
Positive end-expiratory pressure
Granulocyte-macrophage colony-stimulating factor
- 7.Hammami S, Harrathi K, Lajmi K, Hadded S, Meriem CB, Guédiche MN. Congenital pulmonary alveolar proteinosis. Case Rep Pediatr. 2013;2013. doi:10.1155/2013/764216.