287552

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

Article

Last updated: 03 Jan 2025

Subjects

-

Tags

Genetic, hereditary, and developmental aspects of renal diseases.
Glomerular disorders, HUS, SLE, and other vasculitides.

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.

DOI

10.21608/geget.2022.287552

Keywords

Idiopathic nephrotic syndrome, NPHS2, c.686G>A, c.538G>A Steroid-resistant, Steroid-sensitive

Authors

First Name

Nora

Last Name

Selim

MiddleName

-

Affiliation

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

Email

nora.selim@hotmail.com

City

-

Orcid

-

First Name

Amal

Last Name

Abd Elwahab

MiddleName

-

Affiliation

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

Email

amal_abd_wahab@yahoo.com

City

-

Orcid

-

First Name

Mirna

Last Name

Selwanes

MiddleName

-

Affiliation

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

Email

makkar.mirna@gmail.com

City

-

Orcid

-

First Name

Amr

Last Name

salem

MiddleName

-

Affiliation

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

Email

dr.amrsalem@hotmail.com

City

-

Orcid

-

First Name

Yasmin

Last Name

Ramadan

MiddleName

-

Affiliation

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

Email

yasminramadan@kasralainy.edu.eg

City

-

Orcid

000000034095749

Volume

17

Article Issue

2

Related Issue

39864

Issue Date

2022-12-01

Receive Date

2022-09-07

Publish Date

2022-12-30

Page Start

1

Page End

9

Print ISSN

1687-613X

Online ISSN

2636-3666

Link

https://geget.journals.ekb.eg/article_287552.html

Detail API

https://geget.journals.ekb.eg/service?article_code=287552

Order

287,552

Type

Original Article

Type Code

675

Publication Type

Journal

Publication Title

GEGET

Publication Link

https://geget.journals.ekb.eg/

MainTitle

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

Details

Type

Article

Created At

24 Dec 2024