Congenital Emphysema

Congenital (present at birth) abnormalities can cause emphysema in children.

What is Congenital Emphysema?

Emphysema occurs when there is damage to the alveoli (air sacs in the lungs). Typically a characteristic of adults with a history of smoking, this lung condition causes severe shortness of breath. In very rare cases, children can develop emphysema due to an abnormality that is present when they are born.

What are the different types of Congenital Emphysema?

Types of emphysema in children include:

Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency – this protein protects the alveoli (air sacs in the lungs) from damage due to a certain enzyme in the body. This damage to the air sacs of the lungs can lead to emphysema.

Lobar emphysema

Lobar emphysema – a rare respiratory condition in which air enters the lungs but cannot escape, leading to over-inflation of the lungs

What are the signs and symptoms of Congenital Emphysema?

Signs and symptoms of emphysema may include:

  • Breathing very quickly (respiratory distress)
  • Difficulty breathing
  • Bluish tint to the skin (due to decreased oxygen in the blood)
  • Enlarged chest
  • Underdevelopment of the cartilage that supports the bronchial tube (the passages through which air flows in and out of the lungs)

What are the causes of Congenital Emphysema?

A hereditary (passed down in families) gene mutation causes emphysema in children.