Feature of distribution of polymorphic options of genes associated with thrombophilia and arterial hypertension in children with hemolytic-uremic syndrome

Abstract

INTRODUCTION. The basis of hemolytic-uremic syndrome (HUS) is the pathology of hemostasis with the development of a condition that threatens the patient's life. Violations of the hemostatic system are probably largely due to a hereditary predisposition to thrombophilia.

THE AIM. To study the characteristics of allelic polymorphism of genes associated with hereditary thrombophilia in 15 children with hemolytic-uremic syndrome.

PATIENTS AND METHODS. A study was conducted of 15 children with HUS from the age of 1 to 4 years who were treated in the nephrology department of the clinic of St. Petersburg State Medical University. A typical HUS was diagnosed in 14 children. One child was diagnosed with atypical HUS confirmed by laboratory tests (increased levels of antibodies to protein H). At the Research Institute of Hematology and Transfusiology of the FMBA of Russia, PCR for all 15 patients and two parents analyzed the polymorphism of genes associated with thrombophilia.

RESULTS. In all examined children, polymorphism of genes associated with various links of hemostasis was found. Two patients showed a mutation in the factor V gene (FV Leiden). In 7 patients out of 15 subjects, the homozygous state of the plasminogen activator inhibitor (PAI-1 - 675 4G / 5G) was revealed.

CONCLUSION. The FV Leiden mutation, as the main reason for the resistance of activation of protein C (an inhibitor of the formation of thrombin), was found in two children, one with a typical HUS, and one with an atypical HUS. In 7 children out of 15 subjects, a homozygous state of plasminogen activator inhibitor (PAI-1 - 675 4G / 5G) was revealed, which may indicate insufficient fibrinolytic activity in these children, as an important factor contributing to the development of TMA.