Urinary proteome signature of Renal Cysts and Diabetes syndrome in children

• DOI: 10.1038/s41598-019-38713-5
• Publication Date: 2019-02-18T11:03:22Z
• Authors: Pierbruno Ricci; Pedro Magalhães; Magdalena Krochmal; Martin Pejchinovski; Erica Daina; Maria Rosa Caruso; Laura Goea; Iwona Belczacka; Giuseppe Remuzzi; Muriel Umbhauer; Jens Drube; Lars Pape; Harald Mischak; Stéphane Decramer; Franz Schaefer; Joost P. Schanstra; Silvia Cereghini; Petra Zürbig
• Keywords: PKD1; Multicystic dysplastic kidney

Abstract Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for transcriptional factor hepatocyte nuclear factor-1B. RCAD characterized as a multi-organ disease, with 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 genital tract malformations. In present study, using capillary electrophoresis coupled to mass spectrometry (CE-MS), we investigated urinary proteome pediatric cohort patients different controls identify peptide biomarkers obtain further insights into pathophysiology this disorder. As result, 146 peptides were found be associated 22 when compared healthy age-matched controls. A classifier based on these was generated tested independent cohort, clearly discriminating from groups This study demonstrates that differs polycystic disease ( PKD1 , PKD 2), congenital nephrotic syndrome NPHS1 NPHS2 NPHS4 NPHS9 ) well chronic conditions, suggesting differences between behind disorders.