Chronic Ventilation in Infants with Surfactant Protein C Mutations: An Alternative to Lung Transplantation

摘要

To the Editor: We report a series of patients with surfactant protein C (SFTPC) dysfunction mutations who presented with severe and persistent respiratory failure in early infancy, resulting in discussions of lung transplantation and withdrawal of support. All three patients were successfully chronically ventilated and weaned off mechanical ventilation (MV). Institutional review board consent was obtained at the University of Colorado. SFTPC mutations were first recognized in 2001, when a 6-week-old child presented with respiratory distress and a family history of lung disease, and genetic studies revealed the SFTPC mutation. Symptom onset in SFTPC dysfunction mutations varies from during the neonatal period to in senior citizens. In addition, outcomes vary tremendously, from asymptomatic family members to respiratory failure leading to transplant or death. Hydroxychloroquine has been associated with weaning patients off oxygen, significant weight gain, and improvements in chest radiography. However, once a child requires persistent MV, typically discussions arise around withdrawal of support versus transplantation. A case report was recently published of an infant who required persistent MV and was able to wean completely off all support.