{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T11:48:35Z","timestamp":1790423315142,"version":"4.1.0"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T00:00:00Z","timestamp":1744761600000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>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).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>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\u201396.6], a specificity of 100% (95% CI 92.0\u2013100%) and an area under the receiver operating characteristics curve (AUC) of 0.994 (95% CI 0.93\u20131.00). The 77-peptide signature displayed a specificity of 76.1% (95% CI 72.4\u201379.5) and an AUC of 0.88 (95% CI 0.85\u20130.90) 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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ckj\/sfaf093","type":"journal-article","created":{"date-parts":[[2025,4,16]],"date-time":"2025-04-16T02:56:43Z","timestamp":1744772203000},"source":"Crossref","is-referenced-by-count":4,"title":["Urinary peptide signature distinguishes autosomal recessive polycystic kidney disease from other causes of chronic kidney disease"],"prefix":"10.1093","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9787-1096","authenticated-orcid":false,"given":"Kathrin","family":"Burgmaier","sequence":"first","affiliation":[{"name":"University Hospital Cologne and University of Cologne, Faculty of Medicine Department of Pediatrics, , Cologne ,","place":["Germany"]},{"name":"Faculty of Applied Healthcare Science, Deggendorf Institute of Technology , Deggendorf ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Buffin-Meyer","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Institut of Metabolic and Cardiovascular Disease (I2MC) , Toulouse ,","place":["France"]},{"name":"University of Toulouse , Toulouse ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Klein","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Institut of Metabolic and Cardiovascular Disease (I2MC) , Toulouse ,","place":["France"]},{"name":"University of Toulouse , Toulouse ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Becknell","sequence":"additional","affiliation":[{"name":"Kidney and Urinary Tract Center, Abigail Wexner Research Institute at Nationwide Children's Hospital , Columbus , OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daryl","family":"McLeod","sequence":"additional","affiliation":[{"name":"Kidney and Urinary Tract Center, Abigail Wexner Research Institute at Nationwide Children's Hospital , Columbus , OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Boeckhaus","sequence":"additional","affiliation":[{"name":"Clinic of Nephrology and Rheumatology, University Medical Center Goettingen , Goettingen ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8390-8852","authenticated-orcid":false,"given":"Oliver","family":"Gross","sequence":"additional","affiliation":[{"name":"Clinic of Nephrology and Rheumatology, University Medical Center Goettingen , Goettingen ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Dafinger","sequence":"additional","affiliation":[{"name":"University Hospital Cologne and University of Cologne, Faculty of Medicine Department of Pediatrics, , Cologne ,","place":["Germany"]},{"name":"Center for Molecular Medicine, University Hospital Cologne and University of Cologne, Faculty of Medicine , Cologne ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justyna","family":"Siwy","sequence":"additional","affiliation":[{"name":"Mosaiques Diagnostics , Hannover ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Decramer","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), Institut of Metabolic and Cardiovascular Disease (I2MC) , Toulouse ,","place":["France"]},{"name":"University of Toulouse , Toulouse ,","place":["France"]},{"name":"Rheumatology and Nephrology, Toulouse University Hospital Department of Pediatric Internal Medicine, , Toulouse ,","place":["France"]},{"name":"Centre De R\u00e9f\u00e9rence Des Maladies R\u00e9nales Rares du Sud-Ouest (SORARE), Toulouse University Hospital , Toulouse ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University of Heidelberg , Heidelberg ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0494-9080","authenticated-orcid":false,"given":"Max C","family":"Liebau","sequence":"additional","affiliation":[{"name":"University Hospital Cologne and University of Cologne, Faculty of Medicine Department of Pediatrics, , Cologne ,","place":["Germany"]},{"name":"Center for Molecular Medicine, 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