ABCA3 Dysfunction

What is ABCA3 Dysfunction?

ABCA3 dysfunction happens when there is a problem with the ABCA3 protein. The abnormal protein makes it so surfactant doesn’t work right. It can build up inside the alveoli. This causes lung inflammation and injury. Children may also have breathing problems because they don’t have enough normal surfactant in their lungs.

This is caused by a mutation (mistake) in the ABCA3 gene. It is an autosomal recessive condition. This means a child needs to have two copies of the abnormal gene to show symptoms. The mutations happen at random or can be passed on by parents.

ABCA3 dysfunction can happen in infants, children, and adults. Children with ABCA3 dysfunction can have trouble breathing and low oxygen levels. It can cause problems soon after birth and make babies very sick. Symptoms can also be mild and develop slowly over time.

Diagnosis

ABCA3 dysfunction is possible when babies or children have trouble breathing and abnormal chest imaging. Several studies may need to be done. These include:

• A chest x-ray may show areas of pneumonia.
• A lung scan (chest CT) may show areas of grayish-white and could look like areas of pneumonia.
• Genetic testing for ABCA3 mutations is usually what can tell us the diagnosis. The results of genetic testing will usually take several weeks. Sometimes testing also needs to be done in parents.
• If a child is very sick or a diagnosis is not made through genetic testing, a lung biopsy may be needed.
• In children aged 6 years and older, pulmonary function tests are used to follow changes in lung function.

Treatment

Treatment is to support breathing and nutrition. There is no cure for any of the surfactant disorders. There are several treatments that doctors might recommend.

Children may need oxygen to help keep their oxygen levels normal. They may need positive pressure to help them breathe oxygen in and carbon dioxide out. Children who are very sick with ABCA3 dysfunction may need the intensive care unit for help breathing. Lung transplant may be considered for babies or children with very severe symptoms.

For new babies, artificial surfactant may help with breathing. It is given through a breathing tube. This only helps for a short time and does not treat the problem long-term. Medicines are often used to block the inflammation in the lungs caused by abnormal surfactant build-up. These might include steroids (given by mouth or by injection), azithromycin, or hydroxychloroquine. Some children benefit more from these treatments than others. More research is needed to help doctors understand how well these medications work.

Your medical team will help decide which medicines to use and how long to use them.

What Does ABCA3 Dysfunction Mean for My Child?

ABCA3 dysfunction can cause different levels of illness in children. This depends on the type of mutations and other health problems your child may have. It can be hard for doctors to predict what life will be like.

Some children only have mild problems and may not be diagnosed until they are several years old. Their symptoms may be well-controlled with medicines and not need oxygen or other breathing support. Children with more severe disease are usually diagnosed very young. They may need oxygen or positive pressure during their whole life. Some patients will need a lung transplant while others will improve as they get older.

What to Watch Out For

• If your child is working hard to breathe, talk to a health care provider. If possible, ask to see a lung specialist who is experienced with these conditions.
• Try to prevent infections from common childhood illnesses. Wash your hands often and ask your friends and family to let you know if they are sick before they are around your child.
• Get your child’s vaccines and yearly flu shot.

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This information is for educational purposes only. It should not be used as a substitute for the medical advice of one’s healthcare provider.