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AADT is an inherited disease of the liver and lungs that causes:
AATD is one of the most common genetic liver diseases. Most people develop the disease after age 20.
AATD affects about:
It occurs most often in Caucasians of European descent.
AADT symptoms include:
In children who are born with this disorder, about 10 percent will end up with severe liver damage.
Symptoms that signal liver damage include:
A blood test can easily diagnose AATD. Your child's doctor will also need to perform an exam and learn his or her medical history.
If the doctor diagnoses AATD, your child will need other tests to see if the disease is affecting the liver.
These tests may include:
The main goal of AATD treatment in the liver and lungs is to manage symptoms and complications.
You may need to avoid giving your child any medicine that can cause or worsen liver damage.
At UPMC Children’s Hospital of Pittsburgh, one of the treatment options for severe AATD is a liver transplant.
A liver transplant is a high-risk surgery but is vital for some children.
To help prevent lung damage from AATD, some children will need to:
If your child has alpha-1 antitrypsin deficiency, we want you to know that you're not alone. The Center for Rare Disease Therapy (CRDT) is here to help. To make an appointment for your child or refer a patient for AATD, contact a Genetic Counselor by:
Here’s what you can expect when you come to the us for your child's AATD consult.
We’ll schedule an appointment with one of our pediatric liver specialists within a reasonable time based on your child’s condition.
We'll ask the referring doctor to send us your child's medical records as soon as possible for our review.
Looking over your child's records ahead of time lets us:
You can expect your first visit to take about 3 to 4 hours.
Your child will receive a complete exam to make or confirm a precise AADT diagnosis. The doctor will order blood work and other tests to find out how much the disease has affected your child.
We'll talk with you about:
The doctor may want your child to see other rare disease experts here at the center. If not on the first visit, then on later visits.
Feel free to ask the doctor any questions about AADT, treating and caring for your child, or anything else.
Before the end of your visit, we will schedule one or more follow-up visits. If surgery is a treatment option, we'll help you learn what the surgery entails and how to prepare for it.
You’ll also meet our clinical nurse practitioner (NP). You can contact the NP by phone or video conference with any concerns between now and your next appointment.
You can expect a phone call within 2 weeks to explain your child's test results and discuss next steps.
Test results are also on MyCHP — Children's patient portal. MyCHP is free for UPMC Children’s Hospital of Pittsburgh patients, parents, and guardians.
When a child has a rare disease, it affects the whole family.
You know your child better than anyone else. At the Center for Rare Disease Therapy, we see each family member as our partner in care.
The best treatment occurs when we combine our AATD knowledge with your expertise in what’s best for your child.
Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.
View Center for Rare Disease Therapy patient stories »
At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.
For an appointment, consult, or referral, contact us:
We’ll be in touch within 2 business days.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.