Glucocorticoid pharmacogenetics in pediatric idiopathic nephrotic syndrome

Author:

Cuzzoni Eva1,De Iudicibus Sara2,Franca Raffaella2,Stocco Gabriele3,Lucafò Marianna4,Pelin Marco3,Favretto Diego2,Pasini Andrea5,Montini Giovanni6,Decorti Giuliana3

Affiliation:

1. Graduate School in Reproduction & Developmental Sciences, University of Trieste, I-34127 Trieste, Italy

2. Institute for Maternal & Child Health IRCCS Burlo Garofolo, I-34137 Trieste, Italy

3. Department of Life Sciences, University of Trieste, I-34127 Trieste, Italy

4. Department of Medical, Surgical and Health Sciences, University of Trieste, I-34127 Trieste, Italy

5. Nephrology and Dialysis Unit, Department of Pediatrics, Azienda Ospedaliera Universitaria Sant'Orsola-Malpighi, I-40138 Bologna, Italy

6. 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

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 thepir 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.

Publisher

Future Medicine Ltd

Subject

Pharmacology,Genetics,Molecular Medicine

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