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Sci Rep. 2019 Feb 18;9(1):2225. doi: 10.1038/s41598-019-38713-5.

Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.

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Sorbonne Université - CNRS - UMR7622 - Institut de Biologie Paris Seine (IBPS), Paris, France.
Mosaiques Diagnostics GmbH, Hannover, Germany.
Department of Pediatric Nephrology, Hannover Medical School, Hannover, Germany.
IRCCS - Istituto di Ricerche Farmacologiche Mario Negri - Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Ranica Bergamo, Italy.
Unit of Nephrology, ASST Papa Giovanni XXIII, Bergamo, Italy.
University Hospital RWTH Aachen, Institute for Molecular Cardiovascular Research (IMCAR), Aachen, Germany.
Service de Néphrologie Pédiatrique, Hôpital des Enfants, CHU Toulouse, Toulouse, France.
Centre De Référence des Maladies Rénales Rares du Sud Ouest (SORARE), Toulouse, France.
Institut National de la Santé et de la Recherche Médicale (INSERM), U1048, Institut of Cardiovascular and Metabolic Disease, Toulouse, France.
Université Toulouse III Paul-Sabatier, Toulouse, France.
University Children Hospital, Pediatric Nephrology, Heidelberg, Germany.
Mosaiques Diagnostics GmbH, Hannover, Germany.


Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. RCAD is characterized as a multi-organ disease, with a broad spectrum of symptoms including kidney abnormalities (renal cysts, renal hypodysplasia, single kidney, horseshoe kidneys, hydronephrosis), early-onset diabetes mellitus, abnormal liver function, pancreatic hypoplasia and genital tract malformations. In the present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated the urinary proteome of a pediatric cohort of RCAD patients and different controls to identify peptide biomarkers and obtain further insights into the pathophysiology of this disorder. As a result, 146 peptides were found to be associated with RCAD in 22 pediatric patients when compared to 22 healthy age-matched controls. A classifier based on these peptides was generated and further tested on an independent cohort, clearly discriminating RCAD patients from different groups of controls. This study demonstrates that the urinary proteome of pediatric RCAD patients differs from autosomal dominant polycystic kidney disease (PKD1, PKD2), congenital nephrotic syndrome (NPHS1, NPHS2, NPHS4, NPHS9) as well as from chronic kidney disease conditions, suggesting differences between the pathophysiology behind these disorders.

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