Genetic Variations in the NPHS2 Gene in Children with Nephrotic Syndrome: A Cross-Sectional Study.
Selim, N., Abd Elwahab, A., Selwanes, M., salem, A., Ramadan, Y. (2022). Genetic Variations in the NPHS2 Gene in Children with Nephrotic Syndrome: A Cross-Sectional Study.. EKB Journal Management System, 17(2), 1-9. doi: 10.21608/geget.2022.287552
Nora Selim; Amal Abd Elwahab; Mirna Selwanes; Amr salem; Yasmin Ramadan. "Genetic Variations in the NPHS2 Gene in Children with Nephrotic Syndrome: A Cross-Sectional Study.". EKB Journal Management System, 17, 2, 2022, 1-9. doi: 10.21608/geget.2022.287552
Selim, N., Abd Elwahab, A., Selwanes, M., salem, A., Ramadan, Y. (2022). 'Genetic Variations in the NPHS2 Gene in Children with Nephrotic Syndrome: A Cross-Sectional Study.', EKB Journal Management System, 17(2), pp. 1-9. doi: 10.21608/geget.2022.287552
Selim, N., Abd Elwahab, A., Selwanes, M., salem, A., Ramadan, Y. Genetic Variations in the NPHS2 Gene in Children with Nephrotic Syndrome: A Cross-Sectional Study.. EKB Journal Management System, 2022; 17(2): 1-9. doi: 10.21608/geget.2022.287552

Genetic Variations in the NPHS2 Gene in Children with Nephrotic Syndrome: A Cross-Sectional Study.

GEGET
Volume 17, Issue 2, December 2022, Page 1-9  XML PDF (226.06 K)
Document Type: Original Article
DOI: 10.21608/geget.2022.287552
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Authors
Nora Selim1; Amal Abd Elwahab1; Mirna Selwanes1; Amr salem2; Yasmin Ramadan email orcid 2
1Department Clinical & Chemical Pathology, Kasr Al Ainy, School of Medicine, Cairo University, Cairo, Egypt.
2Department of Pediatrics, Kasr Al Ainy, School of Medicine, Cairo University, Cairo, Egypt.
Abstract
Introduction: Children with various genetic backgrounds, including those carrying the NPHS2 gene, which encodes the protein podocin necessary for the maintenance of the glomerular permeability barrier, are more likely to develop idiopathic nephrotic syndrome (INS), which is the most prevalent glomerular disease. Variations in this gene may influence the prognosis and steroid responsiveness in children with INS.                                                                                Aim of the study: Our objective was to investigate the association of NPHS2 genetic variants rs61747728 and rs7415347 with susceptibility to INS in children and their response to steroid therapy.                                                                            Methods: Fifty children with INS, 25 with steroid-sensitive (SSNS), 25 with steroid-resistant (SRNS), and 50 healthy controls of the same age and gender participated in a cross-sectional study. By the Real-Time Polymerase Chain Reaction (RT-PCR) approach, all participants were tested for NPHS2 (c.686G>A; rs61747728) and (c.538G>A; rs7415347) SNVs.        Results: In the current study, all patients (SSNS and SRNS) and the control group had the homozygous common genotype (GG).  In addition, when it came to NPHS2 686G>A and 538G>A, all patients and controls had the G allele, and no one had the harmful A variant.                                                                                                                          Conclusion: We conclude that NPHS2 (c.686G>A; rs61747728) & (c.538G>A; rs7415347) variations do not influence the susceptibility and response to steroids in INS patients involved in our study.
Keywords
Idiopathic nephrotic syndrome; NPHS2; c.686G>A; c.538G>A Steroid-resistant; Steroid-sensitive
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