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العنوان
Genetic Susceptibility in Idiopathic Nephrotic Syndrome /
المؤلف
Mohammed, Heba Farouk Gaber.
هيئة الاعداد
باحث / هبه فاروق جابر محمد
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مشرف / خديجة محمد أبو جبل
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مشرف / دينا أحمد عزت
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مشرف / مني زكي شريف
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الموضوع
Nephrotic syndrome.
تاريخ النشر
2015.
عدد الصفحات
100 P. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الطب
تاريخ الإجازة
1/1/2015
مكان الإجازة
جامعة بني سويف - كلية الطب - الباثولوجيا الإكلينيكية والكيميائية
الفهرس
Only 14 pages are availabe for public view

Abstract

NS is the commonest glomerular disease encountered during childhood. It’s a chronic disorder characterized by defective glomerular filtration barrier. This barrier is impermeable to proteins in health but becomes permeable in NS.
NS is defined as the combination of a triad of heavy proteinuria (protein/creatinine ratio greater than 200 mg/mmol), hypoalbuminemia (less than 2.5g/dl) and generalized edema. This triad is typically accompanied by dyslipidemia with elevated plasma cholesterol and triglycerides.
Evidence is accumulating that cytokines play a critical role as mediators of inflammation and as progressive factors in childhood NS. Several cytokines are considered prime candidates for mediating childhood NS progression including TNF-α, IL-4 and IL-6.
Cytokines are small proteins that are released by various cells in the body, usually in response to an activating stimulus. They induce responses through binding to specific receptors.
Many genetic polymorphisms that affect cytokine expression represent disease modifiers and influence the severity or progression of immune-mediated and chronic inflammatory diseases.
Tumor necrosis factor alpha -G308A cytokine gene polymorphism may be a causative factor for nonresponsiveness towards steroid therapy among INS children as this polymorphism has been shown to directly affect TNF-α expression.
This study was conducted on 50 subjects were divided into 2 groups:
First group (patient group): Included 35 previously diagnosed INS patients (23 with SSNS, 12 with SRNS), with an age ranging from 1-15 years from those attending the Pediatric Nephrology clinic of Beni-Suef University Hospital
Second group (control group): Included 15 healthy age and sex matched controls, with an age ranging from 1-15 years with no history of NS or other autoimmune disease.
All subjects were subjected to the following laboratory investigations:
1) Routine investigations for NS patients:
Serum proteins (Total proteins and albumin), Creatinine, Serum total cholesterol, Urinary protein/creatinine ratio, Alkaline phosphatase, Calcium, Phosphorus and Hemoglobin level.
2) Specialized investigations:
Genomic DNA extraction and analysis for TNFα-G308A SNPs using PCR followed by restriction fragment length polymorphism (PCR-RFLP) method.
Results of the current study revealed that:
In comparison the two groups (patients and controls) as regards TNFα-G308A genotypes frequencies and allele frequencies in the current study, there was no statistically significant difference between both groups. This may be due to small samples size.