Pulmonary alveolar proteinosis: experience with eight pediatric cases and a review

Abstract

We report eight pediatric cases of pulmonary alveolar proteinosis (PAP) that illustrate the polymorphic nature of this disease: two cases with severe neonatal onset, three cases with progressive respiratory distress in patients under 1 year old, and three cases in older children with mild symptoms. Consanguineous parents or affected siblings were identified or suspected in four families. Three patients suffered from associated immune or blood disorders (severe combined immune deficiency, myelodysplasia). The respective roles of a macrophagic dysfunction and of an anomaly of the surfactant are discussed according to the various clinical presentations of pediatric PAP. We performed eight unilateral pulmonary lavages under endoscopy and selective ventilation for two patients under 7 kg in weight. These interventions led to progressive discontinuation of oxygen therapy in one case, and temporarily stabilized the disease for the second. Subsequent recurrence in this second patient was treated by massive lavage under extracorporeal oxygenation. A third infant was successfully transplanted with no recurrence within 3 years. Ambroxol was administered in one case. The three oldest children of our series remained asymptomatic, whereas three of the younger patients died. In the light of this experience, we propose that the treatment administered should be determined according to the age of the patient, the degree of respiratory deficiency, and the nature of any associated pathology.