BRS3
Bronchial Restriction Syndrome 3 (BRS3): An Overview
Description
Bronchial Restriction Syndrome 3 (BRS3) is a rare, inherited respiratory disorder characterized by severe airway obstruction and inflammation. It is caused by mutations in the surfactant protein C (SFTPC) gene, which encodes a protein essential for proper lung function.
SFTPC forms part of the pulmonary surfactant, a complex mixture of lipids and proteins that lines the alveoli (air sacs) in the lungs. Surfactant reduces surface tension, allowing the alveoli to expand and contract easily during breathing.
In BRS3, mutations in the SFTPC gene result in a dysfunctional surfactant, leading to impaired lung function. Infants with BRS3 typically present with respiratory distress shortly after birth.
Associated Diseases
BRS3 is often associated with other pulmonary diseases, including:
- Interstitial lung disease: Inflammation and scarring of the lung tissue
- Bronchiectasis: Abnormal widening and damage to the bronchi
- Pneumonia: Infection of the lungs
Did you Know ?
BRS3 affects approximately 1 in 70,000 newborns worldwide.
