acinar dysplasia

Acinar dysplasia is a rare and lethal developmental lung malformation. It is characterized by an underdevelopment of the lungs, known as pulmonary hypoplasia, and an arrest in the lung development phase called the pseudoglandular stage. As a result of this abnormal development, there is an absence of the normal lung structures needed for gas exchange, which leads to neonatal respiratory insufficiency. This means that newborns with this condition have serious difficulty breathing due to the underdeveloped lungs.

People with acinar dysplasia often show signs of breathing problems right after birth. The main symptom is neonatal respiratory insufficiency, which means the lungs are not able to exchange oxygen and carbon dioxide properly.

Acinar dysplasia is caused by a disruption in lung development during the early stages of life. It is associated with mutations in certain genes, including FGF10, FGFR2, and TBX4. These genetic changes can interfere with the normal growth and formation of lung tissues, leading to the severe features seen in this condition.

Information about treatment is currently limited for this condition.

The prognosis for acinar dysplasia is very poor. This condition is considered lethal because the lung malformations do not support adequate gas exchange, leading to life-threatening respiratory problems shortly after birth.

Information about current research and future directions is currently limited for this condition.