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Saudi Journal of Kidney Diseases and Transplantation
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ORIGINAL ARTICLE Table of Contents   
Year : 2021  |  Volume : 32  |  Issue : 6  |  Page : 1615-1627
Clinicopathological Impact of Gene Polymorphism of Nephrin and Glucocorticoid Receptor Genes in Egyptian Children with Nonfamilial Nephrotic Syndrome


1 Pediatric Nephrology Unit, Mansoura University Children’s Hospital, Mansoura University, Mansoura, Egypt
2 Department of Medical Biochemistry, Mansoura University, Mansoura, Egypt
3 Pediatric Genetics Unit, Mansoura University Children’s Hospital, Mansoura University, Mansoura, Egypt

Correspondence Address:
Ahmed M. El-Refaey
Pediatric Nephrology Unit, Mansoura University Children’s Hospital, Mansoura University, Mansoura, Egypt.
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1319-2442.352422

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Idiopathic nephrotic syndrome (NS) is one of the most common primary glomerular diseases in children. In this study, we investigate the association of single-nucleotide polymorphisms of nephrin gene and glucocorticoid receptor gene (NR3C1) and susceptibility to develop NS and the response to steroid therapy in 100 Egyptian children with NS using polymerase chain reaction-restriction fragment length polymorphism. We also analyzed the correlation between the genotypes and clinicopathologic features of the patients. Thirty-four patients (34%) were initial steroid nonresponders, renal biopsy findings of those patients were available, of which 22 (64.7%) showed minimal change NS and 12 (35.3%) had focal segmental glomerulosclerosis. The distribution of the genotypes was comparable between the patient and control groups, allele frequencies showed no significant difference between the patient’s group and the control group. The genotypes showed no correlation with the age of onset of NS, initial steroid responsiveness, renal pathologic findings, estimated glomerular filtration rate (eGFR), and serum albumin. However, 24-h protein in urine showed a significant association with the NR3C1 gene. These data suggested that the nephrin gene and NR3C1 gene SNPs do not affect the development of NS, initial steroid responsiveness, renal pathological lesion, eGFR, and serum albumin. However, 24-h protein in urine showed a significant association with the NR3C1 gene in Egyptian children with NS.


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