Congenital lobar emphysema (CLE) is a rare respiratory condition diagnosed in newborns and infants. A mild form of this condition is also sometimes diagnosed in adults. CLE isn’t emphysema, an acquired condition associated with smoking.
Both CLE and emphysema affect the lungs. However, these conditions are distinct from one another. They’re not different versions of the same disease.
Read on to learn more about CLE and the outcomes and treatments for people with this condition.
Congenital lobar emphysema is a respiratory disorder that occurs in around
CLE can cause a defect in bronchial cartilage, which results in airway obstruction or collapse. It may also reduce the amount of bronchial cartilage in the lung. Bronchi are the lung’s main airways. Their job is to carry air in and out.
CLE may be earmarked by alveoli that are abnormally small. Alveoli are air sacs located at the ends of bronchioles (air tubes) in the lungs. Alveoli are where blood and lungs exchange oxygen and carbon dioxide during respiration.
Babies born with CLE can breathe air in, but they can’t breathe air out. This causes the lobes of the lung to overinflate (hyperinflation). Unlike emphysema acquired in adulthood, CLE doesn’t cause tissue damage or alveoli damage.
There are two forms of CLE:
- Hypoalveolar: Lungs contain fewer alveoli than is typical.
- Polyalveolar: Lungs contain more alveoli than is typical.
Around
CLE is more likely to occur in people assigned male at birth than in people assigned female at birth.
In some instances, CLE may be caused by a mutated (faulty) gene that’s inherited from either parent. Only one parent needs the gene in order for it to be passed down. This is referred to as a dominant gene.
People with the gene mutation for CLE have a 50% chance of passing it on to their offspring with each pregnancy.
Even though this condition is more common in boys than girls, the mutated gene at cause is autosomal. Autosomal genes are located on a nonsex chromosome. This means that the gene mutation can be passed onto a child of any gender.
CLE may also be caused by a gene mutation that occurs, without being inherited, in a baby born with this condition.
Genetics aren’t always the cause of CLE. An underlying cause can’t be determined in around
CLE symptoms in infants can be severe. In some instances, CLE symptoms may be mistaken for pneumonia.
Symptoms of CLE include:
- trouble breathing
- rapid breathing (respiratory distress)
- trouble feeding
- wheezing
- cyanosis (bluish skin)
- respiratory retractions (drawing in of muscles located between the ribs during inhalation)
- enlarged chest (caused by overinflation of at least one lung lobe)
- compressed lung tissue
CLE is rarely diagnosed in adults. Adults with this congenital condition may be asymptomatic or have symptoms such as coughing and recurrent pneumonia.
In contrast, acquired emphysema in adults takes years to develop and worsens over time. Smoking cigarettes is the primary cause of acquired emphysema.
Symptoms of emphysema include:
- wheezing
- shortness of breath
- chest tightness
- coughing with mucus
Prenatal imaging tests (ultrasound) may uncover CLE in your baby while you’re pregnant. Prenatal diagnosis is beneficial for preparedness and symptom control at birth.
About a third of babies with CLE are diagnosed shortly after birth, when symptoms emerge.
Adults with this condition often find out they have it during testing for something else.
If your baby presents with CLE symptoms, either as a newborn or within the first few months of life, get medical support immediately.
Your baby may have some or all of these imaging tests done to confirm a diagnosis of CLE or another condition:
An infant pulmonary function test (lung function test) may also be done. This test measures breathing and the amount of air in the lungs. Sedation is required for this test.
Symptom severity will determine the type of treatment your baby needs. If your baby has mild or moderate CLE, conservative treatments may be enough to reduce respiratory symptoms.
When CLE is severe, surgical removal of part of a lung (lobectomy) or the entire lung is needed. This can sound scary. However, lung surgery enables normal lung function and is beneficial for eliminating or reducing respiratory symptoms.
As your child grows, rapid compensatory growth of the lung will occur. This results in normal or near-normal lung size and capacity in many children who have lung surgery as babies.
No matter what type of treatment your child has, ongoing monitoring will be needed to avoid complications, such as lung infections.
Diagnostic testing and treatments for CLE have advanced over the past several decades. But early diagnosis is vital. This condition is potentially life-threatening when it’s not monitored and treated appropriately. Timely treatment of CLE can result in excellent outcomes for kids. Babies born with this condition can grow, thrive, and have a normal life span.
Congenital lobar emphysema is a rare respiratory disorder that’s sometimes genetic in origin. Babies born with this condition can breathe air in but can’t breathe it out.
Treatments for CLE range from conservative to surgical. When diagnosis and treatment are provided in a timely manner, the outlook for babies born with CLE is excellent.