title: Urinary proteomics for the study of genetic kidney diseases.
abstract: Despite their low prevalence, genetic kidney diseases (GKD) still represent a serious health problem. They often lead to kidney failure and to the consequent need of dialysis or kidney transplant. To date, reliable diagnosis requires laborious genetic tests and/or a renal biopsy. Moreover, only scant and non-specific markers exist for prognostic purposes. Biomarkers assayed in an easily available and low-cost sample, such as urine, would be highly valuable. Urinary proteomics can provide clues related to their development through the identification of differentially expressed proteins codified by the affected genes, or other dis-regulated species, in total or fractionated urine, providing novel mechanistic insights. In this review, the authors summarize and discuss the results of the main proteomic investigations on GKD urine samples and in urinary extracellular vesicles.
authors.affiliation: a School of Medicine and Surgery , University of Milano-Bicocca , Monza , Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Raimondo
authors.affiliation: a School of Medicine and Surgery , University of Milano-Bicocca , Monza , Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Cerra
authors.affiliation: a School of Medicine and Surgery , University of Milano-Bicocca , Monza , Italy.
authors.forename: Fulvio
authors.initials: F
authors.lastname: Magni
authors.affiliation: a School of Medicine and Surgery , University of Milano-Bicocca , Monza , Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Pitto
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000652:urine; D055354:Exosomes / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000378:metabolism* / Q000652:urine; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics / Q000378:metabolism* / Q000652:urine; D025202:Molecular Diagnostic Techniques / Q000379:methods; D020543:Proteome / Q000235:genetics / Q000378:metabolism*; D040901:Proteomics / Q000379:methods*
chemical_list: D015415:Biomarkers; D020543:Proteome
keywords: biomarkers; exosomes; extracellular vesicles; genetic diseases; kidney; urine