Today and Future Neutrino Experiments at Krasnoyarsk Nuclear Reactor

The results of undergoing experiments and new experiment propositions at Krasnoyarsk underground nuclear reactor are presentedComment: 4 page

GILBERT’S SYNDROME IN CHILDREN: CONTEMPORARY DIAGNOSTIC POTENTIALITIES

Gilbert’s syndrome is a benign indirect hyperbilirubinemia of the hereditary nature, caused by deficiency of the enzyme uridindiphosphatglucuronitransferase. UGT1A1 gene is localized on chromosome 2q37. The most common is a defect in the promoter region of the gene pairs in the thymine-adenin. 200 children aged 8 to 16 years with clinical and laboratory manifestations of Gilbert syndrome have been examined. All children undergone to a genetic study. It was calculated that the external signs, the shown complaints and laboratory manifestations are not enough sensitive and specific. This suggests that these symptoms can not be used as criteria for diagnosis of the Gilbert syndrome. The obtained results allow to recommend that all children with hyperbilirubinemia and Gilbert’s syndrome suspected should undergo to a genetic research as a priority.Key words: liver, hyperbilirubinemia, Gilbert syndrome, gene UGT1A1, diagnosis, children

GILBERT’S SYNDROME IN CHILDREN: CONTEMPORARY DIAGNOSTIC POTENTIALITIES

Gilbert’s syndrome is a benign indirect hyperbilirubinemia of the hereditary nature, caused by deficiency of the enzyme uridindiphosphatglucuronitransferase. UGT1A1 gene is localized on chromosome 2q37. The most common is a defect in the promoter region of the gene pairs in the thymine-adenin. 200 children aged 8 to 16 years with clinical and laboratory manifestations of Gilbert syndrome have been examined. All children undergone to a genetic study. It was calculated that the external signs, the shown complaints and laboratory manifestations are not enough sensitive and specific. This suggests that these symptoms can not be used as criteria for diagnosis of the Gilbert syndrome. The obtained results allow to recommend that all children with hyperbilirubinemia and Gilbert’s syndrome suspected should undergo to a genetic research as a priority.Key words: liver, hyperbilirubinemia, Gilbert syndrome, gene UGT1A1, diagnosis, children

АПОСТЕРИОРНАЯ ЦЕННОСТЬ КЛИНИЧЕСКИХ И ЛАБОРАТОРНЫХ ПРОЯВЛЕНИЙ СИНДРОМА ЖИЛЬБЕРА У ДЕТЕЙ

Gilbert’s syndrome is a benign indirect hyperbilirubinemia of the hereditary nature, caused by deficiency of the enzyme uridindiphosphatglucuronitransferase. UGT1A1 gene is localized on chromosome 2q37. The most common is a defect in the promoter region of the gene pairs in the thymine-adenin. 200 children aged 8 to 16 years with clinical and laboratory manifestations of Gilbert syndrome have been examined. All children undergone to a genetic study. It was calculated that the external signs, the shown complaints and laboratory manifestations are not enough sensitive and specific. This suggests that these symptoms can not be used as criteria for diagnosis of the Gilbert syndrome. The obtained results allow to recommend that all children with hyperbilirubinemia and Gilbert’s syndrome suspected should undergo to a genetic research as a priority.Key words: liver, hyperbilirubinemia, Gilbert syndrome, gene UGT1A1, diagnosis, children.Синдром Жильбера — доброкачественная непрямая гипербилирубинемия наследственного характера, обусловленная недостаточностью фермента уридиндифосфатглюкуронилтрансферазы. Ген UGT1A1 локализован на 2q37 хромосоме. Наиболее распространенным является дефект на промоторном участке гена в области пары тимин-аденин. Обследовано 200 детей в возрасте от 8 до 16 лет, имеющих клинико-лабораторные проявления синдрома Жильбера. Всем детям проведено генетическое исследование. Высчитано, что внешние признаки, предъявляемые жалобы и лабораторные проявления имеют недостаточную чувствительность и специфичность. Это говорит о том, что данные признаки не могут быть использованы как критерии диагностики синдрома Жильбера. Полученные результаты позволяют рекомендовать всем детям с гипербилирубинемией и подозрением на синдром Жильбера проводить генетическое исследование как приоритетное.Ключевые слова: печень, гипербилирубинемия, синдром Жильбера, ген UGT1A1, диагностика, дети. (Педиатрическая фармакология. — 2011; 8 (4): 101–104