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العنوان
Association between SDF-1 (rs2297630) Gene Polymorphism and Treatment Response in Children with chronic Immune Thrombocytopenia in Beni-Suef Governorate /
المؤلف
Ezzat, Amr Mohammed Nady.
هيئة الاعداد
باحث / عمــرو محمــد نــادي عـــزت
dr.amr_lifemakers@yahoo.com
مشرف / محمــــــد حسيــــن معبـــد
مشرف / محمـــود محمــــد عبد الخالق
مشرف / رشـــــا عبدالــرازق محمـــــود
الموضوع
Thrombocytopenia. Polymorphism, Genetic.
تاريخ النشر
2019.
عدد الصفحات
108 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
الناشر
تاريخ الإجازة
23/4/2019
مكان الإجازة
جامعة بني سويف - كلية الطب - الاطفال
الفهرس
Only 14 pages are availabe for public view

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from 117

Abstract

SUMMARY
ITP is an acquired autoimmune disorder characterized by accelerated platelet destruction and suboptimal platelet production. Most children with ITP have a good prognosis, and only 5%” ” ” " ~ " ” ” ”10% of pediatric ITP patients have severe, chronic and/or refractory disease and require platelet-enhancing therapy. Severe bleeding is uncommon at diagnosis in children with ITP (2.9%) and rare (0.5%) during the following 28 days. ICH is an uncommon but devastating complication of ITP with high mortality and morbidity. The goal of treatment for children with ITP is to maintain a hemostatically safe platelet count while avoiding potential side effects of therapy.
Stromal-derived factor-1 (SDF-1) plays a role in megakaryopoiesis and may be involved in the pathogenesis of ITP.
In this case-control study, we investigated the association of in the SDF-1 polymorphism rs2297630 in Egyptian children with ITP. In this assessment, peripheral blood samples were collected from 50 ITP patients and 50 apparently healthy controls who attended our tertiary care hospital in hematology clinic, children’s department,Beni-SuefUniversity.
Peripheral blood genomic DNA was extracted and subjected to PCR-RFLP, to examine SDF-1 gene polymorphism and its relation to susceptibility, different clinical parameters, response to treatment and disease outcome.
Statistical analysis of our data showed that the frequency of the G allele (the polymorphic wild allele) is found to be significant higher in healthy controls (80%) than ITP group (45%). While the allele A (the polymorphic mutant allele) was found to be significant higher in the ITP group (55%) than the healthy controls (20%) (P-value <0.001) [(OR) = 4.89 (95%, CI: 2.7-8.9)], suggesting that the presence of the allele A is associated with increased risk of ITP development and a protective role of the allele G against disease development. The A/A and A/G genotypes were highly significant more presented among the patients with ITP (15%), (60%) respectively, while G/G genotype was less presented in them (15%) when compared to the healthy controls group (P-value <0.001). It was observed that A/A genotype was absent in controls group.
Further statistical analysis of laboratory data showed the high significant difference between the G/G, A/G and A/A genotypes regarding Hb level (p-value<0.01). It was noted that the lowest hemoglobin level was related to A/A genotype compared to G/G and A/G genotypes (P> 0.003).
There was significant difference among patients with the polymorphic mutant allele A and those with the wild allele G as regards mucous membrane bleeding risk (p=0.032).
Based on the results of this study, we concluded that that SDF-1 rs2297630polymorphism is a genetic risk factor, and may play a role in the pathogenesis of ITP in Egyptian children.