Surfactant Protein A Deficiency
Surfactant Protein A Deficiency is a rare genetic disorder that affects the lungs. It is caused by mutations in the SFTPA1 gene, which is responsible for producing a protein that helps maintain normal lung function. This deficiency can lead to respiratory problems, particularly in infants and young children, as the lungs struggle to produce enough surfactant, a substance that reduces surface tension in the air sacs.
Individuals with this condition may experience symptoms such as difficulty breathing, recurrent lung infections, and low oxygen levels. Diagnosis typically involves genetic testing and clinical evaluation. Treatment focuses on managing symptoms and may include supportive care, such as oxygen therapy and medications to improve lung function.