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Pulmonary alveolar proteinosis: experience with eight pediatric cases and a review
B Mahut1, C Delacourt, P Scheinmann
1Service de Pneumologie et d'Allergologie Pédiatriques, Hôpital des Enfants Malades, Paris, France.
Insights
Pediatric pulmonary alveolar proteinosis (PAP) presents diversely, from severe neonatal onset to milder forms in older children. Treatment strategies for this rare lung disease should be tailored to patient age and disease severity.
Area of Science:
- Pulmonology
- Pediatrics
- Genetics
Background:
- Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by surfactant accumulation in the alveoli.
- Pediatric PAP exhibits a wide spectrum of clinical presentations, necessitating tailored management approaches.
Observation:
- This study details eight pediatric cases of PAP, highlighting variations in onset, severity, and associated conditions such as immune deficiencies.
- Clinical heterogeneity was observed, ranging from severe neonatal respiratory distress to mild symptoms in older children.
- Genetic factors, including consanguinity, were suspected in some families, suggesting a potential hereditary component.
Findings:
- Unilateral pulmonary lavage was performed in two infants, with one achieving oxygen independence and the other temporary stabilization.
- Lung transplantation was successful in one infant, with no recurrence at 3 years.
- Treatment outcomes varied significantly, with three younger patients succumbing to the disease while older children remained asymptomatic.
Implications:
- The findings underscore the importance of individualized treatment plans for pediatric PAP, considering patient age, respiratory compromise, and comorbidities.
- Further research into the underlying mechanisms, including macrophagic dysfunction and surfactant anomalies, is warranted.
- Early diagnosis and appropriate therapeutic interventions, such as pulmonary lavage or transplantation, can significantly impact patient outcomes.
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.