Surfactant Protein Deficiency
Surfactant Protein Deficiency is a rare genetic disorder that affects the lungs, primarily seen in newborns. It occurs when the body does not produce enough surfactant proteins, which are essential for keeping the air sacs in the lungs open. This deficiency can lead to severe breathing difficulties and respiratory distress syndrome.
The condition is often linked to mutations in specific genes, such as SFTPB, SFTPC, and ABCA3. Diagnosis typically involves clinical evaluation, imaging studies, and genetic testing. Treatment may include supportive care, such as oxygen therapy and mechanical ventilation, to help manage symptoms and improve lung function.