Introduction. In patients with microcirculatory type of bleeding on the background of undifferentiated connective tissue dysplasia (UCTD), along with a tendency to bleeding, genetic predictors of thrombogenic risk are identified. Materials and methods. DNA samples of 92 adolescents (55 boys and 37 girls) aged from of 6 months to 18 years were used. The control group consisted of 115 children (I-II health groups). The analysis was based on the Real-Time PCR method using competing TagMan probes. The genetic testing of 12 allelic DNA polymorphisms was carried out. There was performed the analysis of laboratory and instrumental methods. The results were statistically processed with using the StatSoft Statistica 6.1 software package. Results. There was determined an increased prevalence of occurrence of the minor G(-455) allele of the gene of FGB fibrinogen, the minor allele (C807) of the gene of platelet receptor for ITGA2 collagen, and the rare homozygous 4G (-675) allele of the PAI-1 gene in patients compared with healthy children. Homozygous genotype (rare allele) 807TT of the ITGA2 gene of the platelet receptor for collagen and homozygous genotype 4G(-675)4G of the PAI-1 gene in patients with bleeding manifestations on the background of UCDT were detected significantly more often than in healthy children. In 76 (82.6%) children there were detected phenotypic signs of UCDT, their average number for each patient was of 3.2 ± 0.7. In the blood of sick children, there was a decrease in platelet aggregation by 2 and 3 inducers (epinephrine, ADP, collagen) and an increased concentration of homocysteine. Conclusion. The detection of hidden genetic predictors of thrombogenic risk in patients with microcirculatory type of bleeding against the background of UCDT is an indication for personification of treatment, since with an increase in the predictors of thrombophilia in such patients, the risk of thrombosis increases. In this case, the state of thrombotic or hemorrhagic predisposition should be determined in a timely manner, and hemostatic therapy with drugs that do not provoke thrombosis should be used against the background of angioprotectors.
Altai State Medical University РЕФЕРАТ ЦЕЛЬ ИССЛЕДОВАНИЯ: анализ клинико-лабораторных проявлений гиперкальциурии у детей г. Барнаула, проживающих в зоне резко континентального климата Юга Западной Сибири. ПАЦИЕНТЫ И МЕТОДЫ. В исследование включены 239 детей в возрасте от 1 мес до 16 лет (средний возраст 6,6±2,72 года) с идиопатической гиперкальциурией (ИГ), диагностированной по уровню кальций/креатининового коэффициента (ККК) более 0,6 ммоль/ммоль и нормального плазменного содержания кальция и паратгормона. Проводилось общеклиническое обследование, а также биохимическое исследование крови и мочи с определением уровня кальция, фосфора, креатинина, мочевины и мочевой кислоты, ультразвуковое исследование почек и мочевого пузыря, рентгеноконтрастные методы исследования по показаниям. РЕЗУЛЬТАТЫ. Отягощенная наследственность по мочекаменной болезни (МКБ) была зарегистрирована у 56,1% детей с гиперкальциурией. Анализ сопутствующей патологии показал сочетание ИГ с МКБ у 15,1% пациентов, с инфекциями мочевой системы (ИМС) -у 38,5%, с аномалиями органов мочевой системы -у 27,2% и нейрогенными расстройствами мочеиспускания -у 9,2% детей. В клинической картине заболевания преобладали дизурические расстройства (48,5%) и умеренно выраженный отечный синдром (45,6%). В мочевом осадке у детей с гиперкальциурией наиболее часто регистрировались кристаллурия (31,8%), микрогематурия (19,2%) и лейкоцитурия (13,8%). ЗАКЛЮ-ЧЕНИЕ. Идиопатическая гиперкальциурия у детей нередко сочетается с такими патологическими состояниями, как ИМС, нейрогенные расстройства мочеиспускания, аномалии органов мочевой системы, и является причиной развития МКБ уже в детском возрасте.Ключевые слова: дети, идиопатическая гиперкальциурия, клинико-лабораторные проявления.ABSTRACT THE AIM: to study clinical and laboratory manifestations of hypercalciuria in children of Barnaul, living in the zone of sharply continental climate of the South of Western Siberia. PATIENTS AND METHODS. The study included 239 children aged from 1 month to 16 years (mean age of 6.6±2,72 years) with idiopathic hypercalciuria (IH), diagnosed according to the level of calcium/creatininemia coefficient (CCC), more than 0.6 mmol/mmol and normal plasma calcium and parathyroid hormone. Conducted physical examination and biochemical blood and urine determination of calcium, phosphorus, creatinine, urea and uric acid, ultrasound of the kidneys and bladder, radiopaque research methods indicated. RESULTS. Family history of urolithiasis have been reported in 56.1% children with hypercalciuria. Analysis of comorbidity showed a combination of IH with urolithiasis in 15.1% patients with urinary system infections(USI) -in 38.5%, with anomalies of the urinary system -27,2% children with neurogenic disorders of urination -at 9.2 percent. The clinical picture of the disease prevailed dysuric disorders (48,5%) and moderately pronounced edema syndrome (45,6%). In the urinary sediment of children with hypercalciuria, the most frequently recorded crystalluria (31,8%), microhematuria (19,2%) and leukocyturia ...
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