[Surfactant protein C dysfunction in pediatric patients: Clinical Case]

Area of Science:

• Pulmonary medicine
• Pediatric pulmonology
• Rare genetic disorders

Background:

• Pulmonary surfactant dysfunction disorders stem from genetic defects affecting surfactant metabolism.
• These rare conditions lead to significant morbidity and mortality in neonates and children.

Observation:

• This case series describes three pediatric patients with pulmonary surfactant dysfunction in Peru.
• Clinical, histopathological, and ultrastructural findings of the lamellar body suggestive of surfactant protein C (SP-C) dysfunction were observed.
• Video-assisted lung biopsy and ultrastructural studies were performed.

Findings:

• Treatment with monthly methylprednisolone pulses, daily hydroxychloroquine, and azithromycin was administered.
• Two out of three patients showed a good clinical response to the treatment regimen.
• One patient did not survive despite the therapeutic interventions.

Implications:

• This study contributes valuable data on SP-C dysfunction, particularly from low- and medium-income countries.
• The findings suggest a potential therapeutic approach for SP-C dysfunction in resource-limited settings.
• Further research is needed to optimize treatment strategies for these rare pulmonary disorders.