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Hunter syndrome is an inherited disease caused by a faulty gene.
Children with Hunter syndrome lack an enzyme called iduronate 2-sulfatase that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body.
This causes progressive organ damage, especially to the brain and heart, and breathing problems.
The medical name for Hunter syndrome is mucopolysaccharidosis type 2, or MPS 2.
About 1 in 100,000 to 170,000 babies are born with MPS 2.
It nearly always occurs in males. Females can carry the gene that causes MPS 2.
Changes in the IDS gene cause MPS 2.
This gene tells the body how to make the enzyme you need to break down sugar. If you can't break sugar down, the molecules build up and affect the body's organs.
The gene that causes Hunter syndrome is on the X chromosome.
Because males only have one X chromosome, one altered gene can cause the condition.
Females have two X chromosomes, meaning they need two copies of the faulty gene to get MPS 2. This is why Hunter syndrome is very rare in females.
MPS 2 mostly affects boys, and symptoms often appear around age two.
Hunter syndrome symptoms include:
There are two types of Hunter syndrome (MPS 2): severe and mild.
For children with severe MPS 2, the disease will progress more quickly.
By around age 8, they:
The disease progresses more slowly for children with the mild type of MPS 2.
They often don't have cognitive issues. But they will have heart and breathing issues into adulthood.
If a doctor suspects MPS 2, they’ll test your child's urine to see if there's a build-up of sugar molecules. They will also order a blood test to measure enzyme levels.
Testing a child's genes can confirm the MPS 2 diagnosis.
There’s no cure for Hunter syndrome.
Enzyme replacement drugs may help some children. This type of medicine does the job of the missing enzyme.
A stem cell transplant can also help some children with MPS 2. Transplant isn't an option for all children with MPS 2, but your child's doctor may discuss it with you.
Some supportive techniques that may help kids with MPS 2 include:
Doctors may also suggest surgery to address certain symptoms. For instance, surgery to replace a damaged heart valve can extend a child's life.
If a doctor diagnosed your child with Hunter syndrome, we want you to know you're not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children's Hospital of Pittsburgh is here to help.
To make an appointment for your child or refer a patient for MPS 2 care, contact us by:
Here's what you can expect when you come to us for your child's first consult.
You can expect your first visit to take from 4 hours to a few days. Your child will have a thorough exam from Dr. Deepa Rajan, the NDRD program director.
She will make or confirm a precise diagnosis and find out how much the disease has progressed.
Because we work as a team at the center, other doctors and staff might see your child during your visit.
These may include experts in:
During your visit, we'll talk with you about:
We'll discuss the details of stem cell transplant if we think it might be a good option for your child. We want to make sure you know what the transplant entails and how you may need to prepare.
By the end of your visit, you'll have a care plan tailored to your child's MPS 2 needs. We'll also schedule a follow-up visit in three months.
You'll meet our nurse practitioner, who can answer questions by phone or video call between visits.
Before you leave, feel free to ask us about your child's diagnosis, treatment, or anything else.
We'll call within 2 weeks to review the test results and the next steps for your child's MPS 2 care.
You can also find your child's test results on MyCHP — Children's patient portal. MyCHP portal lets you manage your child's health online.
It's free to kids getting treatment at UPMC Children's and their parents or guardians.
A rare disease like Hunter syndrome affects the whole family.
At the CRDT, every child we see receives a tailored treatment plan and family-centered care.
We treat each family member as our partner. The best care happens when we merge our MPS 2 knowledge with your insight into 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.
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