Comparing NPHS2 and WT1 Mutations in Children with Nephrotic Syndrome
Background: Nephrotic syndrome (NS) is a common type of kidney disease in children characterized by massive proteinuria, hypoalbuminemia and edema. Response to therapy can be affected by factors like pathologic views, genetic and clinical manifestations. The incidence of genetic mutations is differe...
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| Format: | Article |
| Language: | fas |
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Isfahan University of Medical Sciences
2013-08-01
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| Series: | مجله دانشکده پزشکی اصفهان |
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| Online Access: | http://jims.mui.ac.ir/index.php/jims/article/view/2247 |
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| author | Alaleh Gheissari Mona Ziaei Ali Reza Merrikhi |
| author_facet | Alaleh Gheissari Mona Ziaei Ali Reza Merrikhi |
| author_sort | Alaleh Gheissari |
| collection | DOAJ |
| description | Background: Nephrotic syndrome (NS) is a common type of kidney disease in children characterized by massive proteinuria, hypoalbuminemia and edema. Response to therapy can be affected by factors like pathologic views, genetic and clinical manifestations. The incidence of genetic mutations is different in variant geographic locations and races. Response to nephrotic syndrome treatment can be influenced by some mutations in WT1 and NPHS2 genes.
Methods: 49 children suffering from nephrotic syndrome participated in two groups of steroid-sensitive (n = 14) and steroid-resistant (n = 35) nephrotic syndrome. Mutations in WT1 and NPHS2 genes analyzed by polymerase chain reaction (PCR) and direct sequencing. Clinical and pathological reviews were done too.
Findings: There was a significant relationship between both primary creatinine and hypertension in the first visit and resistance to therapy. Pthological views of focal segmental glomerulosclerosis (FSGS), glomerular fibrosis, and glomerular sclerosis were significantly related to steroid resistance group (P < 0.001). Genetic analysis for mutations of WT1 and NPHS2 genes among 29 children with idiopathic nephrotic syndrome showed 2 and 5 different mutations in WT1 and NPHS2 genes, respectively. All of the mutations were seen in steroid-resistant group.
Conclusion: This study demonstrates the importance of WT1 and NPHS2 analysis and pathological study in Iranian children with nephrotic syndrome. |
| first_indexed | 2024-03-12T11:11:35Z |
| format | Article |
| id | doaj.art-5e52624d94a94e6e86692d8474ee11bc |
| institution | Directory Open Access Journal |
| issn | 1027-7595 1735-854X |
| language | fas |
| last_indexed | 2024-03-12T11:11:35Z |
| publishDate | 2013-08-01 |
| publisher | Isfahan University of Medical Sciences |
| record_format | Article |
| series | مجله دانشکده پزشکی اصفهان |
| spelling | doaj.art-5e52624d94a94e6e86692d8474ee11bc2023-09-02T02:50:33ZfasIsfahan University of Medical Sciencesمجله دانشکده پزشکی اصفهان1027-75951735-854X2013-08-01312398008071352Comparing NPHS2 and WT1 Mutations in Children with Nephrotic SyndromeAlaleh Gheissari0Mona Ziaei1Ali Reza Merrikhi2Associate Professor, Department of Pediatrics, School of Medicine AND Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, IranStudent of Medicine, School of Medicine AND Student Research Committee, Isfahan University of Medical Sciences, Isfahan, IranAssistant Professor, Department of Pediatrics, School of Medicine AND Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, IranBackground: Nephrotic syndrome (NS) is a common type of kidney disease in children characterized by massive proteinuria, hypoalbuminemia and edema. Response to therapy can be affected by factors like pathologic views, genetic and clinical manifestations. The incidence of genetic mutations is different in variant geographic locations and races. Response to nephrotic syndrome treatment can be influenced by some mutations in WT1 and NPHS2 genes. Methods: 49 children suffering from nephrotic syndrome participated in two groups of steroid-sensitive (n = 14) and steroid-resistant (n = 35) nephrotic syndrome. Mutations in WT1 and NPHS2 genes analyzed by polymerase chain reaction (PCR) and direct sequencing. Clinical and pathological reviews were done too. Findings: There was a significant relationship between both primary creatinine and hypertension in the first visit and resistance to therapy. Pthological views of focal segmental glomerulosclerosis (FSGS), glomerular fibrosis, and glomerular sclerosis were significantly related to steroid resistance group (P < 0.001). Genetic analysis for mutations of WT1 and NPHS2 genes among 29 children with idiopathic nephrotic syndrome showed 2 and 5 different mutations in WT1 and NPHS2 genes, respectively. All of the mutations were seen in steroid-resistant group. Conclusion: This study demonstrates the importance of WT1 and NPHS2 analysis and pathological study in Iranian children with nephrotic syndrome.http://jims.mui.ac.ir/index.php/jims/article/view/2247Nephrotic syndromeNPHS2 geneWT1 geneMutationChildren |
| spellingShingle | Alaleh Gheissari Mona Ziaei Ali Reza Merrikhi Comparing NPHS2 and WT1 Mutations in Children with Nephrotic Syndrome مجله دانشکده پزشکی اصفهان Nephrotic syndrome NPHS2 gene WT1 gene Mutation Children |
| title | Comparing NPHS2 and WT1 Mutations in Children with Nephrotic Syndrome |
| title_full | Comparing NPHS2 and WT1 Mutations in Children with Nephrotic Syndrome |
| title_fullStr | Comparing NPHS2 and WT1 Mutations in Children with Nephrotic Syndrome |
| title_full_unstemmed | Comparing NPHS2 and WT1 Mutations in Children with Nephrotic Syndrome |
| title_short | Comparing NPHS2 and WT1 Mutations in Children with Nephrotic Syndrome |
| title_sort | comparing nphs2 and wt1 mutations in children with nephrotic syndrome |
| topic | Nephrotic syndrome NPHS2 gene WT1 gene Mutation Children |
| url | http://jims.mui.ac.ir/index.php/jims/article/view/2247 |
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