Association of gene of glucocorticoid receptor polymorphism in children with steroid-resistant nephrotic syndrom


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Resumo

Цель. Провести анализ частоты встречаемости полиморфных маркеров ER22/23EK, TthlllI, N363S, BclI гена глюкокортикоидного рецептора (NR3C1) у детей и со стероидрезистентным нефротическим синдромом (СРНС) по сравнению с контрольной группой. Материал и методы. Пятидесяти восьми (35 девочек, 23 мальчика) детям с CPHC в возрасте от 5 месяцев до 18 лет, средний возраст - 11,8 ± 5,45, проведен генетический анализ с помощью ПЦР-метода для определения частоты встречаемости полиморфных маркеров ER22/23EK, TthlllI, N363S, BclI ГЕНА (NR3C1). КОНТРОЛЬНАЯ ГРУППА ПРЕДСТАВЛЕНА 40 пациентами в возрасте 27-73 лет без воспалительных и эндокринных заболеваний. Результаты. Установлена высокая ассоциация CPHC с аллелем а как в гомозиготном, так и в гетерозиготном состоянии полиморфного маркера ER22/23EK (χ 2 = 10,4; Р = 0,001И χ 2 = 9,66; Р = 0,002). ЧАСТОТА АЛЛЕЛЕЙ И ГЕНОТИПОВ других полиморфных маркеров не отличалась от контрольной группы. Заключение. Наличие аллеля а в полиморфном маркере ER22/23EK у детей со стероидрезистентным HC может обусловливать развитие резистентности к глюкокортикоидной терапии.

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Bibliografia

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