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Сахарный диабет. 2014;(3):83-89

Article is devoted to the review of literature data, and also the analysis of results of own researches concerning genetics, molecular genetics and immunological violations at various forms of the autoimmune diabetes (DM) including classical T1DM, LADA type and an autoimmune polyglandular syndrome of 1 type (APS1). In case of T1DM more than 80% of patients are carriers of one or two strongest predisposing haplotypes: DRB1*O4-DQA1*O3O1-DQB1*O3O2 and DRB1*O3-DQA1*O5O1-DQB1*O201 designated as DQ2 and DQ8. HLA genes can model a clinical features of disease. In Russian population, the children with diabetes manifestation up to 5-year age has significantly often high risk genotypes (DQ2/ DQ8) and significantly less the low risk genotypes in comparison with children, who had manifestation of T1DM in 10 years and later. The long-term 16-years family studies showed the maximum frequency of T1DM in high risk group, constantly accruing in process of increase in term of supervision, and in groups of an average and low risk lower and invariable. The highest risk of T1DM manifestation, reaching 90% at 10 years of supervision is defined by existence of HLA high risk genotypes and many antibodies, revealed from early age. LADA -the hybrid form of autoimmune DM having signs of T1DM and T2DM in the basis. The development of autoimmune process against β-cells can be caused by only gene mutation (APS1). The part of T1DM cases which doesn't have the contributing HLA genes and autoimmune markers in process of studying of the importance of various genes and their biological value can be attributed to new, yet unknown forms of DM.

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Systemic scleroderma is an autoimmune disease of the connective tissue of unknown etiology. It is characterized by skin induration, lesions in the musculoskeletal system and the internal organs, and the Raynaud syndrome. An important component in pathogenesis of systemic scleroderma is disturbance of microcirculation involving endothelial proliferation and destruction, wall thickening and narrowing of the microvessel lumen, vasospasm, hemocyte aggregation, stasis, deformation and reduction of the capillary network (obliterating microangiopathy). Two main forms of the disease are distinguished: the diffuse and localized ones. The systemic nature of the diffuse form of systemic scleroderma is most obvious in the skin, but the digestive tract, respiratory organs, kidneys and the cardiovascular, endocrine, musculoskeletal and genitourinary systems are also affected. The incidence rate of systemic scleroderma is 6.3—12 cases per million population. Single case reports on scleroderma combined with other autoimmune diseases, including type 1 diabetes mellitus, in children and adolescents are available in literature. A rare case of a combination of two autoimmune diseases, type 1 diabetes mellitus and systemic scleroderma, in a 13-year-old girl is reported in this paper.