Surfactant protein C dysfunction in pediatric patients: Clinical Case

Abstract

Pulmonary surfactant dysfunction disorders are caused by genetic defects that alter pulmonary surfactant metabolism. They are rare disorders and cause significant morbidity and mortality in the neonatal and pediatric populations.

Objective: To describe the clinical, histopathological, and ultrastructural findings of the lamellar body that suggest surfactant protein C (SP-C) dysfunction, where confirmatory genetic studies are not available.

Clinical Case: We report three pediatric cases of pulmonary surfactant dysfunction disorders from a pediatric hospital in Peru. Video-assisted lung biopsy was performed in all cases. Ultrastructural studies of the lamellar body were compatible with type- C pulmonary surfactant dysfunction. The treatment used was methylprednisolone pulses monthly for six months, then every two months, varying the duration according to the clinical evolution. They also received daily hydroxychloroquine and azithromycin three times a week. Clinical evaluations, eye fundus, echocardiogram, electrocardiogram, and biochemistry were performed periodically. At follow-up, there was a good response to treatment and no adverse effects were observed. One case died despite the therapies received.

Conclusions: In 3 patients with type-C surfactant dysfunction, treatment with corticosteroids, hydroxychloroquine, and azithromycin was successful in 2 of them. This is one of the first case series reported in Peru that contributes to the study of these diseases, especially in low- and medium-income countries.