Title:Steroid-resistant Nephrotic Syndrome in Children: A Mini-review on Genetic Mechanisms, Predictive Biomarkers and Pharmacotherapy Strategies
VOLUME: 27 ISSUE: 2
Author(s):Hong-Li Guo, Ling Li, Ze-Yue Xu, Xia Jing, Ying Xia, Jin-Chun Qiu, Xing Ji, Feng Chen*, Jing Xu* and Fei Zhao*
Affiliation:Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing 210008, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, School of Basic Medicine and Clinical Pharmacy, China Pharmaceutical University, Nanjing, Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing 210008, Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing 210008, Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing 210008, Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing 210008, Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing 210008, Department of Pharmacy, Children's Hospital of Nanjing Medical University, Nanjing 210008, Department of Nephrology, Children’s Hospital of Nanjing Medical University, Nanjing
Keywords:Steroid-resistant nephrotic syndrome, glucocorticoids, glucocorticoid receptors, monogenetic mutations, podocytes, biomarkers,
management.
Abstract:Steroid-resistant nephrotic syndrome (SRNS) constitutes the second most frequent cause of chronic
kidney disease in childhood. The etiology of SRNS remains largely unknown and no standardized treatment exists.
Recent advances in genomics have helped to build understanding of the molecular mechanisms and pathogenesis
of the disease. The genetic polymorphisms in genes encoding proteins which are involved in the pharmacokinetics
and pharmacodynamics of glucocorticoids (GCs) partially account for the different responses between
patients with nephrotic syndrome. More importantly, single-gene causation in podocytes-associated proteins was
found in approximately 30% of SRNS patients. Some potential biomarkers have been tested for their abilities to
discriminate against pediatric patients who are sensitive to GCs treatment and patients who are resistant to the
same therapy. This article reviews the recent findings on genetic mechanisms, predictive biomarkers and current
therapies for SRNS with the goal to improve the management of children with this syndrome.
