Researchers identify potential diagnostic test for Kawasaki disease

August 6, 2018, University of California - San Diego
Researchers identify potential diagnostic test for Kawasaki disease
A test incorporating the 13-transcripts might enable earlier diagnosis and treatment of KD. Credit: UC San Diego Health and Imperial College

For the first time, researchers at University of California San Diego School of Medicine and Imperial College London, with international collaborators, have determined that Kawasaki Disease (KD) can be accurately diagnosed on the basis of the pattern of host gene expression in whole blood. The finding could lead to a diagnostic blood test to distinguish KD from other infectious and inflammatory conditions.

Results of the international study published on August 6 in JAMA Pediatrics.

Kawasaki is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop 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 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. "We sought to identify a whole blood that distinguishes children with KD in the first week of illness."

Researchers used a case-control approach, including children recruited in hospitals in the United Kingdom, Spain, Netherlands and U.S., with KD or similar illnesses. The majority of study participants with KD came from Rady Children's Hospital-San Diego. The overall study group comprised 404 children with infectious and inflammatory conditions (78 KD, 84 other inflammatory diseases, 242 bacterial or viral infections) and 55 healthy controls.

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 signature distinguished KD from the range of infectious and 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."

Burns said there is currently no point-of-service test for KD. Engineers will have to devise a blood testing method that can be adapted to the emergency department or hospital lab setting to help bring these research findings into practice.

"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."

Researchers identify potential diagnostic test for Kawasaki disease
Jane C. Burns, MD, director of the Kawasaki Disease Research Center at UC San Diego School of Medicine. Credit: UC San Diego Health

Prevalence rates of KD are increasing among children in Asia. Japan has the highest incidence rate, with more than 16,000 new cases per year. One in every 60 boys and one in every 75 girls in Japan will develop KD during childhood.

Incidence rates in the U.S. are lower —19 to 25 cases per 100,000 under age 5—but it is rising, at least in San Diego County. Predictive models estimate that by 2030, 1 in every 1,600 American adults will have been affected by the disease.

Explore further: Gene variant identified for Kawasaki disease susceptibility

More information: JAMA Pediatrics (2018). DOI: 10.1001/jamapediatrics.2018.2293

Related Stories

Gene variant identified for Kawasaki disease susceptibility

February 9, 2017
Kawasaki disease (KD) is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop coronary artery aneurysms—balloon-like bulges of heart vessels—that may ultimately ...

Kawasaki disease and pregnant women: Risks are manageable, provided doctors recognize them

March 6, 2014
In the first study of its type, researchers at the University of California, San Diego School of Medicine have looked at the health threat to pregnant women with a history of Kawasaki disease (KD), concluding that the risks ...

Study evaluates role of infliximab in treating Kawasaki disease

February 24, 2014
Kawasaki Disease (KD) is a severe childhood disease that many parents, even some doctors, mistake for an inconsequential viral infection. If not diagnosed or treated in time, it can lead to irreversible heart damage.

Study finds Filipino children in San Diego County at higher risk for Kawasaki disease

May 6, 2011
While children of all ethnicities can contract Kawasaki disease (KD), a study led by researchers at the Kawasaki Disease Research Center at the University of California, San Diego and Rady Children's Hospital-San Diego finds ...

A urine test for Kawasaki disease

December 20, 2012
A set of proteins detected in urine by researchers at Boston Children's Hospital may prove to be the first biomarkers for Kawasaki disease, an uncommon but increasingly prevalent disease which causes inflammation of blood ...

Recommended for you

Small-scale poultry farming could mean big problem in developing countries

December 16, 2018
Small-scale farming in developing countries provides those in rural communities with income and access to protein, but it may have a large impact on antibiotic resistance, according to a new University of Michigan study.

RNA processing and antiviral immunity

December 14, 2018
The RIG-I like receptors (RLRs) are intracellular enzyme sentries that detect viral infection and initiate a first line of antiviral defense. The cellular molecules that activate RLRs in vivo are not clear.

Faster test for Ebola shows promising results in field trials

December 13, 2018
A team of researchers with members from the U.S., Senegal and Guinea, in cooperation with Becton, Dickinson and Company (BD), has developed a faster test for the Ebola virus than those currently in use. In their paper published ...

Urbanisation and air travel leading to growing risk of pandemic

December 13, 2018
Increased arrivals by air and urbanisation are the two main factors leading to a growing vulnerability to pandemics in our cities, a University of Sydney research team has found.

Drug targets for Ebola, Dengue, and Zika viruses found in lab study

December 13, 2018
No drugs are currently available to treat Ebola, Dengue, or Zika viruses, which infect millions of people every year and result in severe illness, birth defects, and even death. New research from the Gladstone Institutes ...

Researchers discover new interactions between Ebola virus and human proteins

December 13, 2018
Several new connections have been discovered between the proteins of the Ebola virus and human host cells, a finding that provides insight on ways to prevent the deadly Ebola virus from reproducing and could lead to novel ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.