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. These proteins help reduce surface tension in the lungs, allowing for proper breathing and gas exchange. Without sufficient surfactant, individuals may experience severe respiratory distress, particularly in newborns.
Symptoms typically include difficulty breathing, rapid breathing, and low oxygen levels. Diagnosis is often made through genetic testing and clinical evaluation. Treatment may involve supportive care, such as oxygen therapy and mechanical ventilation, to help manage respiratory issues until the child grows and their lungs mature.