الفهرس 
Introduction and Aim of the workOnly 14 pages are availabe for public view
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Abstract
Nephrotic syndrome is a condition characterized by Severe proteinuria, hypoalbuminemia, hypercholesterolemia, and widespread edema which can lead to renal dysfunction and ESRD. PNS is classified by response or lack of response to a standardized corticosteroid therapy into (SSNS) versus (SRNS). Recent investigations have found a single causal genetic mutation in 20-30% of SRNS cohort participants. NPHS1, NPHS2, and ACTN4 are genes that encode proteins that play critical roles in glomerular homeostasis. because of the significance of these genetic mutations NPHS, NPHS2, and ACTN4 in PNS. and their evident biological impact on kidney function, they will therefore be the focus of the current analysis. This study is proposed as the first one to delineate the Possible role of NPHS1 rs437168, NPHS2 rs3829795 and rs2274625, and ACTN4 rs121908415 for phenotype-genotype association in nephrotic syndrome in Egyptian children. from the present study, it may be concluded that : The NPHS1 SNP rs437168 G>A can be used to predict NS disease. It can also be used to distinguish between SRNS and SDNS patients. The NPHS2 SNP rs3829795 has a significant association between NS in children and control, but not between SRNS or SDNS children and control. The second SNP in NPHS2 studied in our study, rs2274625 did not show any significance between NS, SRNS, or control. The study’s findings in the association of rs3829795 and rs2274625 haplotypes among the groups studied were revealed. In both cases and controls, the GG haplotype had the highest rate, while the AG haplotype had the lowest. The AG haplotype was found to be significantly associated with the risk of developing NS. However, no link was discovered between the frequency of rs3829795 and rs2274625 haplotypes and SDNS or SRNS cases. Concerning the ACTN4 rs121908415 SNP, all genotypes detected in both NS cases and controls were wild (AA). This indicates that there was no association between this mutation and NS children.