title: Glucocorticoid pharmacogenetics in pediatric idiopathic nephrotic syndrome.
abstract: Idiopathic nephrotic syndrome represents the most common type of primary glomerular disease in children: glucocorticoids (GCs) are the first-line therapy, even if considerable interindividual differences in their efficacy and side effects have been reported. Immunosuppressive and anti-inflammatory effects of these drugs are mainly due to the GC-mediated transcription regulation of pro- and anti-inflammatory genes. This mechanism of action is the result of a complex multistep pathway that involves the glucocorticoid receptor and several other proteins, encoded by polymorphic genes. Aim of this review is to highlight the current knowledge on genetic variants that could affect GC response, particularly focusing on children with idiopathic nephrotic syndrome.
authors.affiliation: Graduate School in Reproduction & Developmental Sciences, University of Trieste, I-34127 Trieste, Italy.
authors.forename: Eva
authors.initials: E
authors.lastname: Cuzzoni
authors.affiliation: Institute for Maternal & Child Health IRCCS Burlo Garofolo, I-34137 Trieste, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: De Iudicibus
authors.affiliation: Institute for Maternal & Child Health IRCCS Burlo Garofolo, I-34137 Trieste, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Franca
authors.affiliation: Department of Life Sciences, University of Trieste, I-34127 Trieste, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Stocco
authors.affiliation: Department of Medical, Surgical and Health Sciences, University of Trieste, I-34127 Trieste, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Lucafò
authors.affiliation: Department of Life Sciences, University of Trieste, I-34127 Trieste, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Pelin
authors.affiliation: Institute for Maternal & Child Health IRCCS Burlo Garofolo, I-34137 Trieste, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Favretto
authors.affiliation: Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliera Universitaria Sant'Orsola-Malpighi, I-40138 Bologna, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Pasini
authors.affiliation: Pediatric Nephrology and Dialysis Unit, Department of Clinical Sciences and Community Health, University of Milan, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, I-20122 Milano, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Montini
authors.affiliation: Department of Life Sciences, University of Trieste, I-34127 Trieste, Italy.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Decorti
mesh_terms: D002648:Child; D005938:Glucocorticoids / Q000235:genetics* / Q000493:pharmacokinetics / Q000627:therapeutic use*; D006801:Humans; D009404:Nephrotic Syndrome / Q000188:drug therapy* / Q000235:genetics*; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D005938:Glucocorticoids
keywords: P-gp; glucocorticoid receptor; glucocorticoid receptor heterocomplex; glucocorticoids; idiopathic nephrotic syndrome; inflammatory mediators; polymorphisms