The test looks at gene expression to diagnose the disease

A new blood test to diagnose Kawasaki disease on the basis of gene expression is on the anvil, according to a study by researchers at University of California San Diego School of Medicine and Imperial College London.

The finding could lead to a diagnostic blood test to distinguish KD from other infectious and inflammatory conditions. Results of the international study was published in JAMA Pediatrics.

Kawasaki disease is the most common acquired heart disease in children. Kawasaki disease causes inflammation in the walls of medium-sized arteries throughout the body. The inflammation tends to affect the coronary arteries, which supply blood to the heart muscle.

Kawasaki disease is sometimes called mucocutaneous lymph node syndrome because it also affects lymph nodes, skin, and the mucous membranes inside the mouth, nose and throat.

KD is more common in boys than in girls and in children of Asian and Pacific Island descent.

A high grade fever lasting five days, redness in both eyes, a very red & swollen tongue, redness of the palms or soles, skin peeling, rash over body and swollen lymph nodes are the main symptoms. Kawasaki disease is usually treatable, and most children recover from Kawasaki disease without serious problems.

Untreated, roughly one-quarter of children with KD develop coronary artery aneurysms – balloon-like bulges of heart vessels – that may ultimately result in heart attacks, congestive heart failure or sudden death.

“As there is no diagnostic test for Kawasaki disease, late diagnosis often results in delayed or missed treatment and an increased risk of coronary artery aneurysms,” said Jane C. Burns, MD, pediatrician at Rady Children’s Hospital-San Diego and director of the Kawasaki Disease Research Center at UC San Diego School of Medicine.

Transcription is the first step in gene expression, in which information from a gene is used to construct a functional product, such as a protein.

The researchers looked for tell-tale transcription in blood samples. Transcription is the first step in gene expression, in which information from a gene is used to construct a functional product, such as a protein.

“A 13-transcript blood gene expression signature distinguished KD from the range of infectious and inflammatory conditions with which it is often clinically confused,” said Burns. “A test incorporating the 13-transcripts might enable earlier diagnosis and treatment of KD, preventing cardiac complications and reducing inappropriate treatment in those with other diseases. Our findings represent a step toward better diagnosis based on molecular signatures rather than clinical criteria.”

Incidence of Kawasaki disease is rising among children in Asia with incidence in Japan as high as 60 – 150 in every 1,00,000 children below the age of five years. As in many developing countries, majority of children with KD remain undiagnosed in India.

“We are already in discussions with a number of biotechnology companies that might help us turn our gene signature into a test,” said Michael Levin, Professor of Paediatrics & International Child Health at Imperial College. “An accurate test for KD could prevent many children worldwide from being diagnosed too late to prevent coronary artery damage. If we can develop a test based on our gene signature, this could transform diagnosis and enable early treatment of children affected by the disease.”


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