surfactant protein B deficiency
Surfactant protein B deficiency is a rare genetic disorder that affects the lungs. It is caused by mutations in the SFTPB gene, which is essential for producing surfactant proteins that help keep the air sacs in the lungs open. Without enough surfactant, individuals may experience severe breathing difficulties, especially in newborns.
Symptoms often appear shortly after birth and can include rapid breathing, grunting, and low oxygen levels. Diagnosis typically involves genetic testing and lung function assessments. Treatment may require supportive care, such as oxygen therapy and mechanical ventilation, to help manage respiratory distress.