{
  "abstract": "Introduction\n\nEarly 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\n\nUrinary 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 m²) enrolled in EARLY PRO-TECT trial, along with 651 samples from pediatric kidney disease cohorts and healthy controls. The data set was randomly divided into discovery (70%) and validation (30%) cohorts. Differential peptides identified by Wilcoxon testing with Benjamini-Hochberg adjustment were used to develop a support vector machine classifier. Performance was assessed by cross-validation and application to the validation cohort.Results\n\nA 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\n\nWe 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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Nephrology and Hypertension, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.",
    "Clinic of Nephrology and Rheumatology, University Medical Center Goettingen, Goettingen, Germany.",
    "Institut National de La Santé et De La Recherche Médicale (INSERM), UMR 1297, Institute of Metabolic and Cardiovascular Disease, Toulouse, France.",
    "University of Toulouse, Toulouse, France.",
    "Division of Pediatric Nephrology, Department of Pediatrics, Faculty of Medicine, Heidelberg University, Heidelberg, Germany.",
    "Kidney and Urinary Tract Center, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.",
    "Division of Nephrology and Hypertension, Nationwide Children's Hospital, Columbus, Ohio, USA.",
    "Department of Pediatrics, Faculty of Medicine, University Hospital Cologne and University of Cologne, Cologne, Germany.",
    "Faculty of Applied Healthcare Science, Deggendorf Institute of Technology, Deggendorf, Germany.",
    "Department of Pediatrics, University Hospital Aachen, RWTH Aachen University, Aachen, Germany.",
    "Mosaiques Diagnostics, Hannover, Germany.",
    "Institute for Molecular Cardiovascular Research (IMCAR), RWTH Aachen University Hospital, Aachen, Germany.",
    "Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.",
    "Centre de Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.",
    "RICORS2040-renal, Madrid, Spain.",
    "Departamento de Farmacología, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.",
    "Departamento de Medicina, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 20,
  "authors": [
    {
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        0
      ],
      "name": "Julia Byrska"
    },
    {
      "affs": [
        1
      ],
      "name": "Jan Boeckhaus"
    },
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        2,
        3
      ],
      "name": "Kleanthi Voutsadaki"
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    {
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        3
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      "name": "Benjamin Breuil"
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      "name": "Eléonore Delecroix"
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      "name": "Sheila Murunga"
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    {
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        2,
        3
      ],
      "name": "Bénédicte Buffin-Meyer"
    },
    {
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        5,
        6
      ],
      "name": "Brian Becknell"
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    {
      "affs": [
        5
      ],
      "name": "Daryl McLeod"
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    {
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        7,
        8
      ],
      "name": "Kathrin Burgmaier"
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    {
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        7,
        9
      ],
      "name": "Max C Liebau"
    },
    {
      "affs": [
        4
      ],
      "name": "Franz Schaefer"
    },
    {
      "affs": [
        10
      ],
      "name": "Justyna Siwy"
    },
    {
      "affs": [
        10
      ],
      "name": "Harald Mischak"
    },
    {
      "affs": [
        10,
        11
      ],
      "name": "Margarita Kondyli"
    },
    {
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        2,
        3,
        12,
        13
      ],
      "name": "Stéphane Decramer"
    },
    {
      "affs": [
        0,
        14,
        15
      ],
      "name": "Maria D Sanchez-Niño"
    },
    {
      "affs": [
        0,
        14,
        16
      ],
      "name": "Alberto Ortiz"
    },
    {
      "affs": [
        1
      ],
      "name": "Oliver Gross"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Joost P Schanstra"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/30g2ykj440n42.bib",
  "cited_by": 0,
  "doi": "10.1016/j.ekir.2026.107093",
  "fulltext_url": "https://europepmc.org/articles/PMC13695312",
  "id": "30g2ykj440n42",
  "issns": [
    "2468-0249"
  ],
  "landing_url": "https://europepmc.org/article/MED/42927079",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2727|Renal Diseases and Glomerulopathies"
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  "openalex": "W7214283502",
  "pdf_url": "https://europepmc.org/articles/PMC13695312?pdf=render",
  "pmcid": "PMC13695312",
  "pmid": "42927079",
  "published": "2026-09-25",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/30g2ykj440n42.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:21:18Z",
      "native_id": "MED:42927079",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42927079"
    }
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  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2727|Renal Diseases and Glomerulopathies",
      "subfield": "general"
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  ],
  "title": "Urinary Peptidomic Signature for Noninvasive Diagnosis of Alport Syndrome in Children.",
  "title_text": "Urinary Peptidomic Signature for Noninvasive Diagnosis of Alport Syndrome in Children.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:18Z",
  "url": "https://research.draconitic.com/paper/30g2ykj440n42",
  "venue": "Kidney international reports",
  "versions": []
}