2-Gene Blood Test for Kawasaki Disease in Febrile Children Save
JAMA Network Open has publshed that a simple 2-gene blood test may aid the earlier diagnosis of Kawasaki disease in children with febrile illnesses.
This diagnostic study of 541 febrile children, examined the expression of IFI27 and MCEMP1 (by quantitative polymerase chain reaction) was tested across 5 independent cohorts, including incomplete Kawasaki disease, diverse febrile-control etiologies, and coronary artery phenotypes. Patient blood samples were collected prospectively between 2012 and 2023 in Taiwan and between 2022 and 2023 in Shanghai and analyzed retrospectively. The 2-gene KD score derived from change in cycle threshold values normalized to glyceraldehyde 3-phosphate dehydrogenase.
From the total of 541 children (mean age 3.7 years), 243 children had KD. The KD score achieved an AUC of 0.91, with a sensitivity of 94% and a specificity of 82%. The positive likelihood ratio was 5.12, and the negative likelihood ratio was 0.05.
This study found that a 2-gene qPCR assay for IFI27 and MCEMP1 expression distinguished KD from other febrile illnesses. Prospective studies are needed to see if the clinical utility of this test will reduce diagnostic delay and coronary complications.
An accompanying editorial suggested that "this study by Kuo et al provides a significant step forward in identifying a diagnostic test for KD" that may "improve KD diagnosis, with the long-term goal of reducing KD morbidity and mortality".



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