NEW YORK (Reuters Health)—A 13-transcript whole-blood gene expression signature accurately differentiates Kawasaki disease (KD) from other febrile conditions in children, researchers report.
“We believe it is feasible to turn the signature into a diagnostic test,” Dr. Michael Levin from Imperial College London, London, tells Reuters Health by email. “There are a range of methods to rapidly detect RNA transcripts—so we hope to engage a biotechnology company which can help to turn our signature into a rapid and affordable test for diagnosis of KD.”
KD, an acute inflammatory disorder seen predominantly in young children, can be associated with vasculitis, and up to 25% of untreated children can develop coronary artery aneurysms. The nonspecific symptoms of KD lead to diagnostic difficulty and delays in diagnosis and treatment.
Dr. Levin and colleagues in the Immunopathology of Respiratory, Inflammatory and Infectious Disease Study (IRIS) Consortium and the Pediatric Emergency Medicine Kawasaki Disease Research Group identified a 13-transcript signature and tested in discovery set of 78 children with KD, 84 with other inflammatory diseases, 242 with bacterial or viral infections and 55 healthy controls. The signature distinguished KD from other conditions with 81.7% sensitivity, 92.1% specificity and 96.2% overall accuracy.
When applied to 72 KD cases in the validation set who were in the first 7 days of illness, the signature had high sensitivity (85.9%), specificity (89.1%) and accuracy (94.6%).
When compared with the ultimate clinical diagnosis, the transcript signature demonstrated 98.1% accuracy in those with definite KD, 96.3% in those with highly probable KD, and 70.0% in those with possible KD, according to the Aug. 6 JAMA Pediatrics online report.1
“KD has been neglected by research funders in the USA and UK,” Dr. Levin says. “The disease has been perceived as being a rare curiosity, when in fact it is now a common, serious childhood disease.”
“We hope that there will be more awareness of the devastating consequences of the disease and an increase in research funding to understand the etiology, pathogenesis, and treatment,” he says. “We have only used the RNA expression data to identify a diagnostic signature, but the data can also be used to understand how the disease differs from other childhood inflammatory disorders and infection.”
- Wright VJ, Herberg JA, Kaforou M, et al. Diagnosis of Kawasaki disease using a minimal whole-blood gene expression signature. JAMA Pediatr. 2018 Aug 6. doi:10.1001/jamapediatrics.2018.2293.