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العنوان
Gene polymorphism study of nephrin and glucocorticoid receptor genes in Egyptian children with nephrotic syndrome /
المؤلف
Ahmed, Eman Gaber Abd Elhameed.
هيئة الاعداد
باحث / إيمان جابر عبد الحميد أحمد
مشرف / زكريا المرسى
مشرف / أحمد محمود الرفاعى
مشرف / أيمن زكى السيد السمنودى
مناقش / محمد رضا بسيوني
مناقش / دعاء مصطفى توفيق
مناقش / أحمد محمود الرفاعى
الموضوع
Children - Egypt. Nephrotic Syndrome. Nephrin Gene.
تاريخ النشر
2014.
عدد الصفحات
116 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
1/1/2014
مكان الإجازة
جامعة المنصورة - كلية الطب - طب الأطفال
الفهرس
Only 14 pages are availabe for public view

from 150

from 150

Abstract

This study aimed to : 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 nephrotic syndrome and the response to steroid therapy in 100 Egyptian children with NS using polymerase chain reaction-restriction fragment length polymorphism and 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 changes in 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 patients group and the control group. The genotypes showed no correlation with the NS onset age, initial steroid responsiveness, renal pathologic findings, estimated glomerular filtration rate and serum albumin. However, 24hour protein in urine showed significant association with NR3C1 gene. These data suggested that the nephrin gene and NR3C1 gene SNPs do not affect the development of NS, initial steroid responsiveness, renal pathologic lesion, estimated glomerular filtration rate and serum albumin. However, 24hour protein in urine showed significant association with NR3C1 gene in Egyptian children with NS.