Surfactant Protein C Deficiency
Surfactant Protein C Deficiency is a rare genetic disorder that affects the lungs. It is caused by mutations in the SFTPC gene, which is responsible for producing a protein essential for lung function. This deficiency leads to problems with surfactant, a substance that helps keep the air sacs in the lungs open, making it difficult for individuals to breathe properly.
People with this condition often experience respiratory distress, especially in newborns and infants. Symptoms may include rapid breathing, low oxygen levels, and difficulty feeding. Treatment typically involves supportive care, such as oxygen therapy and mechanical ventilation, to help manage breathing difficulties.