Surfactant deficiency, ABCA3-related, is a disorder that makes it hard to breathe.
Surfactant is a substance that coats the lungs and helps them expand after exhaling. Without enough surfactant, breathing becomes difficult, and this condition usually appears shortly after birth as severe breathing problems (respiratory distress syndrome). Some people might not show symptoms until later in childhood or adolescence. Other symptoms include rapid breathing, low oxygen levels, and difficulty gaining weight. There is no cure, but treatment focuses on managing symptoms. This might include care from a lung specialist, mechanical ventilation, and inhaled nitric oxide. Many children with this condition will eventually need a lung transplant.
Several genes can cause this condition. Our test looks for pathogenic (disease-causing) variants in the ABCA3 gene which exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Childrens Interstitial and Diffuse Lung Disease Foundation
Written August 2024
