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

Selim, Nora; Abd Elwahab, Amal; Selwanes, Mirna; Salem, Amr; Ramadan, Yasmin

doi:10.21608/geget.2022.287552

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

Document Type : Original Article

Authors

¹ Department Clinical & Chemical Pathology, Kasr Al Ainy, School of Medicine, Cairo University, Cairo, Egypt.

² Department of Pediatrics, Kasr Al Ainy, School of Medicine, Cairo University, Cairo, Egypt.

10.21608/geget.2022.287552

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.

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