[Pulmonary alveolar proteinosis in two siblings. A case report]

Area of Science:

• Pediatric Pulmonology
• Rare Genetic Disorders
• Respiratory Medicine

Background:

• Pulmonary alveolar proteinosis (PAP) is a rare pediatric lung disease characterized by surfactant accumulation in alveoli.
• Genetic factors are implicated in some forms of PAP, necessitating further research into familial cases.
• Early diagnosis and intervention are crucial for managing pediatric PAP and preventing long-term respiratory compromise.

Observation:

• This report details a unique case of PAP in infant siblings, presenting with differing clinical timelines and severity.
• The female sibling experienced chronic respiratory distress, while the male sibling remained asymptomatic.
• Diagnostic methods included open lung biopsy and bronchoalveolar lavage, confirming PAP in both siblings.

Findings:

• Therapeutic whole lung lavages were administered to both siblings, with the female undergoing six procedures and the male two.
• The female sibling achieved independence from oxygen therapy post-lavage, demonstrating treatment efficacy.
• Long-term follow-up revealed sustained asymptomatic status in the male sibling and two resolved episodes of respiratory distress in the female sibling.

Implications:

• Therapeutic whole lung lavage is an effective treatment for pediatric pulmonary alveolar proteinosis, improving respiratory outcomes.
• Familial occurrence of PAP underscores the importance of genetic counseling and screening in affected families.
• This case highlights the successful application of therapeutic lavages by a Tunisian medical team, expanding global expertise in managing this rare condition.