The effect of genetic thrombophilia the severity of hemolytic-uremic syndrome in children


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Аннотация

Objective: To investigate the effect of genetic thrombophilia on the severity of the hemolytic-uremic syndrome (HUS) in children. Materials and methods: 47 patients with the typical form of HUS (mean age - 19,3±2,1 months) were included in the study. PCR, mass spectroscopy, and PCR-restriction analysis were used to analyze genetic markers of thrombophilia: allelic polymorphism in genes of fibrinogen (FGB), prothrombin (PTG), methylenetetrahydrofolate reductase (MTHFR), plasminogen activator inhibitor (РАI-1), Factor V Leiden (F5), platelet fibrinogen receptor (ITGB3). Effects of polymorphism of the coagulation system genes on the clinical manifestations of HUS (duration of anuria, oliguria, uremia, anemia, dialysis therapy, the severity of thrombocytopenia, proteinuria during the acute stage and at discharge) were studied. Results: Compared with the general population incidence of homozygous genotype MTHFR and ITGB genes in children with HUS was twice as high; incidence of heterozygotes of FGB and РАI-1 genes was significantly higher. Children with a mutant variant of MTHFR C677T gene polymorphism is a group with more severe Hus. Patients with «protrombogenic genotype» of FGB gene also showed prolonged anemia, anuria, uremia, dialysis therapy. The presence of heterozygous and homozygous genotypes of РАI-1 4G (675) 5G and ITGB3 S176T genes affected the duration of anuria, dialysis support and time of renal function recovery. Conclusion: Severity of clinical manifestations of Hus determined by «protrombogenic genotype» of genes mthfr, itgb, fgb and РАI-1.

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Әдебиет тізімі

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