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العنوان
DNA Polymorphism in the Angiotensin Converting Enzyme (ACE) Gene, Serum ACE Activity and the Risk of Nephropathy in Patients with Type I Diabetes Mellitus
المؤلف
Danour,Ashraf EL-Sayed
هيئة الاعداد
باحث / Ashraf EL-Sayed Danour
مشرف / Mona Abd EL-Kader Salem
مشرف / Mohamed Abd El-Adl El-Sawy
مشرف / Eman Monir Sherif
مشرف / Manal Mohamed Abd Al-Aziz
الموضوع
Diabetic nephropathy-
تاريخ النشر
2009
عدد الصفحات
209.p:
اللغة
الإنجليزية
الدرجة
الدكتوراه
التخصص
طب الأطفال ، الفترة المحيطة بالولادة وصحة الطفل
تاريخ الإجازة
1/1/2009
مكان الإجازة
جامعة عين شمس - كلية الطب - Pediatrics
الفهرس
Only 14 pages are availabe for public view

from 290

from 290

Abstract

Objectives. To determine the relationship between polymorphisms in the angiotensin converting enzyme (ACE) gene, serum ACE activity and the risk of diabetic nephropathy. Methods. A longitudinal study was carried out in a population of type 1 diabetic children and adolescents (aged 12 to 18 years).Cases (40 type 1 diabetic patients with diabetic nephropathy) and controls (30 type 1 diabetic patients with normoalbuminuria) were genotyped with PCR protocols for detecting two DNA polymorphisms in the ACE gene : one in intron 7 detected with the restriction enzyme Pst I and the other in intron 16 identified as an insertion/deletion (I/D).Baseline urinary albumin/creatinine and serum ACE were measured at baseline and six months after treatment with ACE inhibitor for patients with nephropathy. Results. The distributions of the genotypes for the I/D polymorphism in the ACE gene differed significantly between cases and controls (p<0.01).The difference was due to an excess of DD homozygotes in cases than controls, implying a risk of nephropathy 1.29 times higher than other genotypes. As regards the gene distribution for pst I polymorphism, cases had significantly more +/+, +/- genotype while controls had excess -/- genotype which indicate that -/- genotype had a renoprotective role. Baseline serum ACE was significantly higher in cases compared to controls(p<0.001).Urinary albumin/creatinine ratio and serum ACE were significantly reduced in patients with diabetic nephropathy after six months of treatment by ACE inhibitor and the response was more evident in diabetics with II or -/- genotype. Conclusion. The results of the present study imply that the risk of diabetic nephropathy is influenced by genetic variability at the ACE locus, the responsible variant is mostly the I/D polymorphism intron16. Moreover, the deletion polymorphism in ACE gene could predict the therapeutic efficacy of ACE inhibition on proteinuria.