What is Surfactant Protein C Dysfunction?
Surfactant is important for normal lungs. Read more about normal surfactant here. Surfactant protein C (SP-C) dysfunction happens when there is a problem with the SP-C protein. The abnormal protein builds up inside cells in 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 SFTPC gene. It is an autosomal dominant condition. This means a child only needs to have one copy of the abnormal gene to show symptoms. The mutation happens at random or can be passed on by a parent.
SP-C dysfunction can happen in infants, children, and adults. Children with SP-C 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:
SP-C 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 SFTPC mutation 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 SP-C 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 SP-C 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 SP-C Dysfunction mean for my child?
SP-C dysfunction can cause different levels of illness in children. Different people with exactly the same SFTPC mutation can be affected in different ways. This makes it 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 medicinesand 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 needa lung transplant while others will improve as they get older.
It is important to protect your child’s lungs from infection by making sure they get the recommended vaccines.
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.
(pdf coming soon)
This information is for Educational Purposes only. It should not be used as a substitute for the medical advice of one’s healthcare provider.
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Author(s): Marie Wright Reviewer(s): Katelyn Krivchenia Version:
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Faces of SP-C
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