Australian discovers gene for deadly Kawasaki disease

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An Australian researcher has identified genes which could make some children more susceptible to the deadly Kawasaki disease - an inflammatory condition in young children that can damage blood vessels.

While the cause of Kawasaki disease remains unknown, it appears to be due to an infection in susceptible children and the breakthrough could lead to a diagnostic test and better treatment for the potentially fatal disease.

An international team of researchers led by Professor David Burgner from the University of Western Australia carried out the first genetic study which looked at the whole of the genome, rather than just selected genes.

The study included almost 900 cases from around the world - there are around 200 cases in Australia each year - and found that genes involved in cardiovascular function and inflammation may be particularly important and some appear to function together.

Named after the professor who first described it, Kawasaki disease usually affects children age six months to four years ; the symptoms include fever, rash, swollen hands and feet and peeling skin but the disease also inflames blood vessels and can cause permanent damage to the heart and may increase the risk of atherosclerosis in early adulthood.

Professor Burgner says it can be difficult to diagnose and is apparently often mistaken for measles or severe infections such as scarlet fever or even meningitis and is a mysterious and very serious disease of young children.

Professor Burgner says as with many diseases genetics were suspected in playing a major role in deciding or determining who actually develops Kawasaki disease - East Asian populations are at particular risk of Kawasaki disease, with 1 in 150 Japanese children affected - when Japanese children move to America which has a relatively low rate, their risk remains as high as it would be if they were in Japan.

The researchers say the illness is 4 to 5 times more common than some more publicly recognized diseases of children such as tuberculosis or bacterial meningitis and is also 10 to 20 times more common in Japanese and Japanese American children than in children of European descent.

Professor Burgner says the risk of brothers and sisters who have had Kawasaki disease is about 10 times the risk of the general population and it is thought that genes are important in determining who actually develops Kawasaki disease.

Professor Burgner says the findings are an important first step in understanding the disease and could lead to a diagnostic test which is important because Kawasaki disease is very difficult to diagnose.

He says better treatment is needed because even the best treatment fails in 5 to 10% of cases to prevent damage to the heart and he hopes that in future a vaccine to prevent Kawasaki disease may be developed.

The international research team, included scientists from the University of Western Australia, the Genome Institute of Singapore, Emma Children’s Hospital, The Netherlands, Imperial College London, UK and the UC San Diego School of Medicine Department of Pediatrics.

The study is published in PLoS Genetics.


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