https://orcid.org/0000-0003-4813-0528
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James H Nurse, Commentary on Diagnostic Odyssey in a Child with Red-Colored Urine and Proteinuria, Clinical Chemistry, Volume 71, Issue 1, January 2025, Page 35, https://doi.org/10.1093/clinchem/hvae084
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The case shared by Guarino et al. is an interesting one, not only because it draws attention to a rare but important diagnosis, but also because of the issues it highlights around diagnostic bias.
Pediatricians are often called upon to consider discoloration in the diapers of newborn babies and, depending on the timing, position in the diaper, and sex of the infant, blood from the umbilicus, urate crystals, or a withdrawal bleed in a female infant may all be seen. Frank hematuria, however, is very rare.
When presented with discoloration in the diaper of a 2½–3-year-old infant, hematuria is a more plausible diagnosis, although it is typically ongoing in the context of infection or postinfective glomerulonephritis, and not so temporary as to be present in one sample and completely absent in the next. However, the initial focus of investigation in this case took an Occam’s Razor approach, pursuing a simple or common diagnosis even in the absence of evidence to support it. Confirmation bias is well recognized in medicine (1), where clinicians will disregard evidence that may not agree with their preferred formulation. Thankfully a cystoscopy was not performed in this child.
