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Updated: Mar 23, 2026

Breath Collection from Children for Disease Biomarker Discovery
Published on: February 14, 2019
Use, abuse and misuse of biomarkers in paediatrics
E Venturini1, C Tersigni1, E Chiappini1
1Department of Health Sciences, University of Florence, Anna Meyer Childrens University Hospital, Florence, Italy.
Insights
No perfect biomarker exists for diagnosing pediatric diseases like infections or autoimmune conditions. Combining existing markers with clinical data is crucial, and new, sensitive tests are needed.
Area of Science:
- Pediatric Medicine
- Clinical Diagnostics
- Biomarker Research
Background:
- A definitive diagnostic standard is lacking for differentiating infectious, inflammatory, autoimmune diseases, and malignancy in pediatric patients.
- Current diagnostic approaches rely on a combination of clinical features, other tests, and biomarkers.
Purpose of the Study:
- To review the current landscape of biomarkers for pediatric disease diagnosis.
- To highlight the need for ideal biomarker characteristics, including high sensitivity, specificity, ease of collection (even in preterm infants), and rapid measurement.
- To emphasize the ongoing search for improved diagnostic tools in pediatric practice.
Main Methods:
- Literature review of available biomarkers and diagnostic strategies in pediatric medicine.
- Analysis of ideal biomarker properties such as sensitivity, specificity, and practicality in infant and preterm populations.
- Discussion of the limitations of current biomarkers and the need for validation of newer markers.
Main Results:
- No single "perfect" biomarker is currently available for pediatric diagnostic use.
- Clinicians must balance the characteristics of available markers with their sensitivity and specificity in various conditions.
- Existing literature indicates a need for new tests with enhanced diagnostic capabilities.
Conclusions:
- The development of novel biomarkers with improved sensitivity and specificity is essential for pediatric diagnostics.
- Future research should focus on validating recently developed biomarkers, such as CD64, IL-27, and IL-8, in pediatric populations.
- A combination of biomarkers, clinical data, and diagnostic tests remains the most effective approach currently.
Abstract:
Currently, a gold standard for distinguishing between infectious, inflammatory, auto-immune diseases and malignancy in infants and children is not available. The combination of biomarkers with clinical features and other diagnostic tests could help clinicians in the diagnostic process. Ideally, a biomarker should have high sensitivity, specificity, and predictive value, as well as being easily obtained also in preterm babies and infants, requiring a small amount of blood and being quickly measured. The available literature agrees on the fact that a perfect biomarker is not currently available in paediatric practice. Thus, clinicians must consider time by time the balance between marker characteristics and their sensitivity and specificity in different conditions. The development of new tests with higher sensitivity and specificity in distinguishing different pathological situations is auspicable. Moreover, future efforts should be focused on validating also in children the recently developed biomarkers including CD64, IL-27 and IL-8.
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