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Urinary peptide signature distinguishes autosomal recessive polycystic kidney disease from other causes of chronic kidney disease

The diagnosis of autosomal recessive polycystic kidney disease (ARPKD) can be hampered by its pronounced phenotypic variability and ARPKD-mimicking phenocopies. Here, for the first time we specifically studied the urinary peptidome of patients with ARPKD with the aim of distinguishing ARPKD from oth...

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Hauptverfasser: Burgmaier, Kathrin (VerfasserIn) , Buffin-Meyer, Bénédicte (VerfasserIn) , Klein, Julie (VerfasserIn) , Becknell, Brian (VerfasserIn) , McLeod, Daryl (VerfasserIn) , Boeckhaus, Jan (VerfasserIn) , Gross, Oliver (VerfasserIn) , Dafinger, Claudia (VerfasserIn) , Siwy, Justyna (VerfasserIn) , Decramer, Stéphane (VerfasserIn) , Schaefer, Franz (VerfasserIn) , Liebau, Max C (VerfasserIn) , Schanstra, Joost P (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: May 2025
In: Clinical kidney journal
Year: 2025, Jahrgang: 18, Heft: 5, Pages: 1-9
ISSN:2048-8513
DOI:10.1093/ckj/sfaf093
Online-Zugang:Verlag, kostenfrei, Volltext: https://doi.org/10.1093/ckj/sfaf093
Verlag, kostenfrei, Volltext: https://academic.oup.com/ckj/article/18/5/sfaf093/8113999?login=true
Volltext
Verfasserangaben:Kathrin Burgmaier, Bénédicte Buffin-Meyer, Julie Klein, Brian Becknell, Daryl McLeod, Jan Boeckhaus, Oliver Gross, Claudia Dafinger, Justyna Siwy, Stéphane Decramer, Franz Schaefer, Max C Liebau and Joost P Schanstra; on behalf of the ARegPKD Consortium
Beschreibung
Zusammenfassung:The diagnosis of autosomal recessive polycystic kidney disease (ARPKD) can be hampered by its pronounced phenotypic variability and ARPKD-mimicking phenocopies. Here, for the first time we specifically studied the urinary peptidome of patients with ARPKD with the aim of distinguishing ARPKD from other causes of chronic kidney disease (CKD).Fifty-eight urine samples from patients with ARPKD, 662 urine samples from paediatric patients with CKD with various other CKD aetiologies and 45 samples from healthy children were included. The urinary peptidome was analysed by capillary electrophoresis/mass spectrometry.A 77-peptide signature specific for ARPKD was identified. Application of this signature in a matched random validation set of 19 samples of patients with ARPKD, 23 samples from patients with other CKD and 21 samples from healthy individuals led to a sensitivity of 84.2% [95% confidence interval (CI) 60.4-96.6], a specificity of 100% (95% CI 92.0-100%) and an area under the receiver operating characteristics curve (AUC) of 0.994 (95% CI 0.93-1.00). The 77-peptide signature displayed a specificity of 76.1% (95% CI 72.4-79.5) and an AUC of 0.88 (95% CI 0.85-0.90) in 591 samples from non-matched children with various CKD aetiologies. The signature was primarily (83%) composed of collagen fragments indicating structural damage. Of the remaining peptides, five originated from proteins known to bind to calcium potentially linking the current work to defaults in calcium signalling in polycystic disease.We determined a urinary peptide signature that identifies paediatric patients with ARPKD with high precision among a population of children with CKD. Knowledge of the identity of the underlying peptides offers a novel starting point for discussion of possible pathophysiological processes involved in ARPKD.
Beschreibung:Online verfügbar: 15. April 2025, Artikelversion: 01. Mai 2025
Gesehen am 14.11.2025
Beschreibung:Online Resource
ISSN:2048-8513
DOI:10.1093/ckj/sfaf093

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