ESPE Abstracts (2016) 86 P-P1-207

Interrelation between ACE Gene I/D Polymorphism and Chronic Kidney Disease Severity in Uzbek Children and Adolescents with Type 1 Diabetes Mellitus

Gulnara Rakhimovaa,b & Akida Sadykovaa


aCenter for the Scientific and Clinical Study of Endocrinology, Tashkent, Uzbekistan; bTashkent Institute of Post-Graduate Studies, Tashkent, Uzbekistan


Background: Generally, diabetic nephropathy onsets and progresses within 5–10 years after DM onset resulting in chronic kidney disease (CKD) causing death in every 4–5th patient with type I DM. Molecular-genetic studies of endogenous/genetic CKD risk factors are of high relevance in understanding of pathogenetic mechanisms underlying formation of nephrosclerosis, and in improvement of interventions.

Objective and hypotheses: To assess renal function and to study interrelation between ACE gene I/D polymorphism and CKD in Uzbek children and adolescents with type 1 diabetes mellitus as per K/DOQI (2012) recommendations.

Method: We examined 120 children and adolescents with type 1 diabetes mellitus with mean age 13.8±2.7 years. Schwartz equation was used to calculate the estimated GFR for all children.

Results: Analysis of HbA1c by CKD severity demonstrated presence of II CKD stage in 23.8% and III CKD stage in 8.3% of children with HbA1c ≤7.5%. Among the examined patients with type 1 diabetes mellitus no cases of V CKD stage (<15 ml/min/1.73 m2) were registered. GFR can be significantly declined even on the stage of normoalbuminuria, when no clinical signs of diabetic nephropathy were present. Thus, GFR value of 80.6±7.5 ml/min/1.73 m2 corresponding to II CKD stage was found in 61.9% of normoalbuminuric Uzbek children and adolescents with type I diabetes mellitus. Analysis of ACE gene distribution demonstrated that 49 (40.8%) patients were the carriers of II genotype; I/D and DD genotypes occurred in 28 (23.4%) and 43 (35.8%) of the patients, respectively.

Conclusion: GFR decline could be seen even in the disease duration less than 5 years (n=38, 31.7%). In 31.6% (n=12) GFR decline corresponded to the one typical of II, III and IV CKD stages. Significant correlation of DD genotype with CKD severity was found in analysis of interrelation between ACE gene genotype distributions in Uzbek children and adolescents with type I diabetes mellitus to confirm effect of genetic factors in CKD progression. ACE gene I/D polymorphism is a molecular-genetic marker of CKD onset and progression in this population.

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