ArticleKidney international reports2026
Urinary Peptidomic Signature for Noninvasive Diagnosis of Alport Syndrome in Children.
Article in Kidney international reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction: Early diagnosis of Alport syndrome (AS) in children remains challenging because early manifestations are nonspecific. Some clinically suspected cases remain genetically unresolved because no disease-causing variant has been identified or the variants identified are of uncertain significance. Urinary peptidomics is a promising noninvasive biomarker approach. We aimed to develop and validate a urinary peptidomic signature for pediatric AS. Methods: Urinary peptide profiles generated by capillary electrophoresis-mass spectrometry were analyzed in 282 urine samples from 57 children with AS (80.7% had X-linked disease, mean age was 10 ± 4 years, 4% were female, and mean estimated glomerular filtration rate [eGFR] was 128 ± 31 ml/min per 1.73 m Results: A total of 151 discriminatory peptides were identified. Sequence information was available for 87 peptides used for classifier generation; 60.9% were collagen-derived. In validation, the classifier achieved an area under the receiver operating characteristic curve (AUC) of 0.999 (95% confidence interval [CI], 0.997-1.000), with 100% sensitivity, 97.4% specificity, and 98.2% accuracy. After adjustment for age, sex, and eGFR, performance remained high (adjusted AUC, 0.918 [95% CI, 0.884-0.951]). Longitudinal analyses demonstrated stable classifier scores over up to 3 years. Conclusion: We developed and validated an accurate urinary peptidomic classifier for noninvasive diagnosis of pediatric AS. The signature may complement genetic testing and support earlier recognition of AS.
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