Study reveals new insights into childhood disease

The study found that children who have had Kawasaki disease have naturally occurring variation in two key genes involved in the immune response.  The findings, which are published today in the leading scientific journalNature Genetics,could help revolutionise diagnosis and treatment of the disease. 

Kawasaki disease is a serious illness affecting young children and may cause symptoms including high fever, rash, swollen hands, red eyes, enlarged glands in the neck and redness of the tongue and lips. In up to a quarter of untreated children, the blood vessels supplying the heart - the coronary arteries - are affected.  Kawasaki disease is one of the most common causes of heart disease acquired during childhood. The heart problems can persist through life and may require coronary artery bypass or rarely even heart transplant. Occasionally Kawasaki disease can be fatal. In Australia, there are believed to be around 200 cases of Kawasaki disease each year and there are thousands more worldwide. 

In the largest study ever to have been conducted on Kawasaki disease (with a total of 2173 cases and 9383 controls), collaborating physicians and scientists from over 70 centres in 11 countries analysed almost 500,000 genetic markers in European-Caucasian cases and controls and then confirmed the findings in Kawasaki disease patients from Australia, Europe, the US, Canada and Asia. They identified the two mutated genes in 5 different cohorts of Kawasaki disease patients.

The study found that one of the altered genes is a receptor for both the body's own antibodies and for intravenous immunoglobulin, antibodies derived from donated blood that is the mainstay of Kawasaki disease treatment. The other gene appears to be involved in regulating the strength of the immune response to infection.

One of the lead researchers, Dr David Burgner, from the Murdoch Childrens Research Institute, says the discovery is an important step towards understanding the condition that has fascinated and frustrated pediatricians and families for decades since its first description in the 1970s.

"Kawasaki Disease is familiar to every pediatrician, but there is no diagnostic test and it can be difficult to diagnose. Similarly, as we don't fully understand the condition, current treatment is non-specific and it doesn't always prevent heart damage - the most serious complication," David said. 

 "However in this study we discovered that when these two genes are mutated, this significantly contributes to the risk of developing Kawasaki Disease, which is a major step forward into understanding and treating this disease. We hope that these findings are an important piece of the jigsaw of Kawasaki disease and will help with the search for easier diagnosis and better treatment."

"It is gratifying that Australian families and researchers played a major role in this important study. The findings will provide important basis for ongoing research and this will hopefully lead to benefits for patients, their families and their doctors."