Alpha-1-Antitrypsin Deficiency in Children
Medically reviewed by Drugs.com. Last updated on May 4, 2025.
Alpha-1 antitrypsin deficiency (AATD) is a condition that increases your child's risk for lung and liver damage. Alpha-1 antitrypsin (AAT) is made by your child's liver and protects his or her lungs and liver from infections. Your child's body may not be able to make enough AAT if he or she was born with abnormal genes that make AAT. If the AAT his or her liver makes is faulty, it can cause liver inflammation, damage, and may lead to liver failure. Your child may also develop AATD if tobacco smoke or chemical fumes decrease the AAT levels.
WHILE YOU ARE HERE:
Informed consent
is a legal document that explains the tests, treatments, or procedures that you may need. Informed consent means you understand what will be done and can make decisions about what you want. You give your permission when you sign the consent form. You can have someone sign this form for you if you are not able to sign it. You have the right to understand your medical care in words you know. Before you sign the consent form, understand the risks and benefits of what will be done. Make sure all your questions are answered.
An IV
is a small tube placed in your child's vein that is used to give medicine or liquids.
Healthcare providers will check your child's vital signs.
Vital signs include blood pressure, heart rate, breathing rate, and temperature. The providers will also ask you or your child about his or her pain.
Medicines:
Diuretics
may be given to help your child's body and lungs get rid of extra fluid. This can help your child breathe easier. Diuretics may make your child urinate more often.
Tests:
- Blood tests help give healthcare providers information about how your child's body is working.
- CT scan: This is also called a CAT scan. A special x-ray machine uses a computer to take pictures of your child's abdomen. It may be used to look at your liver and blood vessels. Your child may be given contrast liquid by mouth or in an IV before the pictures are taken. The contrast liquid may help your child's healthcare provider see the pictures better. Tell the healthcare provider if your child has ever had an allergic reaction to contrast liquid.
- Liver biopsy: Using an ultrasound as a guide, healthcare providers put a needle through your child's skin and into his or her liver. Tissue samples may be taken and sent to a lab for tests. These samples may also tell healthcare providers how damaged your child's liver is.
- Ultrasound: This test uses sound waves to show pictures of your child's organs and tissues on a screen. Ultrasound may be done to looks inside of your child's abdomen.
Treatments:
- Nutrition: Ask your child's healthcare provider if you need to change the foods your child eats. He or she may need to eat foods that are high in calories and vitamins to get proper nutrition.
- Surgery: Your child may need surgery to repair organs damaged by AATD. If your child's liver gets badly damaged, he or she may need a liver transplant.
RISKS:
- Your child may have side effects from the treatment for AATD. Even with treatment, symptoms may get worse. AATD may cause liver problems that can worsen as your child ages. Damage to the liver may lead to cirrhosis, liver disease, or cancer. Infections and alcohol may increase your child's risk for liver disease. During a liver transplant, your child may get an infection or bleed too much. There is a chance your child's new liver will not work at all. Your child's symptoms may take some time to decrease or go away.
- If AATD is not treated, your child's liver and lungs may continue to be damaged as he or she grows up. He or she may not gain weight or grow as fast as other children his or her age. Tumors and scars may appear on your child's liver and cause it to become hard and stop working. His or her eyes and skin may turn yellow, and he or she may bleed and bruise easily. Your child's kidneys may also be damaged and stop working. He or she may have trouble breathing and get tired easily. AATD may lead to lung disease such as emphysema or other lung disease. Your child may die if his or her lungs have too much damage. His or her kidneys, skin, and blood vessels may also be harmed by AATD.
CARE AGREEMENT:
You have the right to help plan your child's care. Learn about your child's health condition and how it may be treated. Discuss treatment options with your child's healthcare providers to decide what care you want for your child.© Copyright Merative 2025 Information is for End User's use only and may not be sold, redistributed or otherwise used for commercial purposes.
The above information is an educational aid only. It is not intended as medical advice for individual conditions or treatments. Talk to your doctor, nurse or pharmacist before following any medical regimen to see if it is safe and effective for you.
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