الفهرس 
Review of literature Pathophysiology of Type 1 Diabetes MellitusOnly 14 pages are availabe for public view
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Abstract
Type 1 diabetes mellitus is one of the most common diseases in children and adolescents. It’s an autoimmune disorder results in production of anti-islet antibodies which destruct β cells of the pancrease leading to absolute or relative insulin defeciency. Incidence of type 1 diabetes is increasing annualy, with lack of susceptible or precipitating factor in several patients.
Genetic susceptibility has a very important role in the development of type 1 diabetes. Several genes were found to be associated with type 1 diabetes; one of the most important genes is interleukin 2 receptor- gene which was found to be associated with type 1 diabetes in many studies in several countries.
Thus, the present study was designed to evaluate the association between T1DM to IL2RA polymorphism as well as the onset of the disease and its complications. It is a case control study. It included 86 children aged from 5-18 years old. They were divided into 2 groups: group 1 (Diabetics) that included 43 children who were collected from the Diabetes Clinic, Children’s Hospital, Ain Shams University during the period from June 2014 to December 2014. They were included upon confirmed diagnosis of T1DM and receiving insulin therapy. Children with any other concomitant chronic illness (not related to diabetic complications), systemic infections, any genetic syndromes or any major illness since birth were excluded from the study, and group 2 (Control) that included 43 non diabetics age and sex matched healthy children.
Children were submitted to history taking laying stress on age of onset of T1DM, duration of the disease, thorough clinical examination includes growth assessment, fundus examination, and neurological examination. Investigations included RBS, HbA1c, urinary micro albumin, total blood cholesterol level, blood triglyceride level, and genetic study of IL2RA polymorphism by using Real Time PCR.
There was statistically insignificant differences between studied diabetics and controls concerning age distribution; p>0.05 for all. The mean age at onset in studied diabetics was 6.7±4.2 years while that of illness duration was 5.7±3.8 years
Studied diabetics and controls were well matched regarding gender distribution (p = 0.3198). On the other hand, family history of diabetes was significantly more encountered among diabetics compared to controls (p <0.0001). Also, weight below the 5th percentile was significantly prevalent among diabetics (p <0.0001). Mean insulin dose (Unit/Kg) for enrolled diabetic patients was 1.0±0.29.
Mean values of random blood sugar, and HbA1c (%) were significantly higher among studied diabetics compared to controls; p < 0.0001 for both.
Frequency distribution of the recorded clinical and biochemical complications among studied diabetics; delayed puberty (28%) was the most frequently encountered clinical complication while micro-albuminuria was the most prevalent biochemical complication (60.5%).
Studied IL2RA rs706778 polymorphism revealed significantly more prevalent AA and AG genotype among studied diabetics while GG genotype was significantly more prevalent in controls; p <0.0001. On the other hand, A allele was significantly more encountered in diabetics compared to controls while G allele was significantly predominant among controls; p <0.0001.
AA genotype was significantly associated with older age at onset of studied cases with T1DM while AG and GG were associated with younger age at onset of the disease; p <0.0001.
AA and AG genotype were significantly associated with delayed puberty, and family history of DM in enrolled diabetics. On the other hand, AG genotype was insignificantly more associated with shorter disease duration while GG was insignificantly more associated with longer disease duration.
AA was the only genotype recorded in studied overweight diabetics while AG and GG were significantly associated with underweight; p < 0.0001.
AG genotype was significantly associated with neuropathy and retinopathy while there was no significant association between different encountered genotypes and hypertension.
AG and GG genotypes were significantly associated with micro-albuminuria and hypertriglyceridemia while only AG genotype was significantly associated with hypercholesterolemia; p <0.0001 for all.
Conclusions: the present study confirmed a significant association between IL2RA rs706778 polymorphism and T1DM in the form of a more prevalent AA and AG genotypes of IL2RA rs706778 polymorphism among studied diabetics while GG was the prevalent genotype in controls. On the other hand, “A” allele was significantly more encountered in diabetics compared to controls while G allele was significantly predominant among controls. Furthermore, age at onset, disease duration, family history of DM, and complications namely delayed puberty, neuropathy, retinopathy, micro-albuminuria, hypertriglyceridemia, and hypercholesterolemia showed significant association with IL2RA rs706778 polymorphism.
تعدد الاشكال من IL2AR/CD25 في الاطفال المصابين بداء السكري من النوع الاول