Several children with WAGR syndrome suffer from a condition known as "chronic pancreatitis." Chronic pancreatitis is a serious problem. It can cause significant pain and in rare cases can even be life-threatening. Pancreatitis is not common in typical children, so it is important for parents of children with WAGR syndrome to be aware of the signs and symptoms and to alert their child’s physician to the possibility.
There are two reasons why children with WAGR syndrome may be susceptible to pancreatitis. First, the PAX6 gene is important not only in the development of the eye, but also in the development of the pancreas as well. So some people with aniridia may also have defects in the anatomy or function of the pancreas. In addition, many of our children have high levels of fatty molecules in the blood, called "lipids." This condition is called "hyperlipidemia," or "hypertriglyceridemia," (having high levels of triglycerides, a particular type of fatty molecule). It is thought that having high levels of fats in the blood increases the risk of pancreatitis.
Pancreatitis is in inflammation of the pancreas, which is a large gland behind the stomach. The pancreas secretes digestive enzymes into the small intestines through a small tube called the pancreatic duct. These enzymes help digest fats, proteins, and carbohydrates in food. The pancreas also releases insulin and glucagon into the bloodstream. These are hormones that help the body use the glucose it takes from food for energy.
Typically these digestive enzymes do not become active until they reach the small intestine, where they begin digesting food. If these enzymes become active while still inside the pancreas, they start "digesting" the pancreas itself.
Acute pancreatitis occurs suddenly and lasts for a short period of time. Chronic pancreatitis does not resolve and can result in a slow destruction of the pancreas itself. Either type of pancreatitis can cause serious complications including bleeding, tissue damage and infection. In extreme cases there can also be damage to other organs.
Signs of acute pancreatitis can include:
~~ Swollen and tender abdomen
~~ Nausea
~~ Vomiting
~~ Fever
~~ Rapid pulse
~~Anxiety
~~Restlessness or irritability
During an acute attack, the blood contains at least three times more amylase and lipase than normal. Amylase and lipase are digestive enzymes formed in the pancreas. A doctor can order a blood test to diagnose acute pancreatitis.
In chronic pancreatitis, patients may have abdominal pain. The pain may get worse when eating or drinking. The pain may spread to the back or become constant and disabling. Other symptoms may include nausea, vomiting, weight loss and fatty stools.
Treatment for pancreatitis might include pain relief, placing a patient on an IV or all liquid diet following an acute attack, and then gradually moving to a diet high in carbohydrates and low in fat. Antibiotics may be prescribed. A doctor may also prescribe pancreatic enzymes to be taken with meals if it is determined that the pancreas is not secreting enough enzymes on its own.
Some children with WAGR syndrome appear to have an altered sense of pain. Because of this, your child’s physician may wish to assess each event of nausea and vomiting, especially if the child appears to have constant recurrent "viral illnesses" that do not affect other family members. We encourage you to speak with your child’s physician about the incidence of pancreatitis in children with WAGR syndrome.
We hope that our ongoing research projects will help us to understand more about why our children are sometimes affected by pancreatitis, and what we can do to help.
You can read more about pancreatitis on the NIH/NIDDK web site: http://digestive.niddk.nih.gov/ddiseases/pubs/pancreatitis
And here:
http://www.emedicinehealth.com/pancreatitis/article_em.htm