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Врожденный гиперинсулинизм. Результаты молекулярно-генетических исследований в российской популяции

https://doi.org/10.14341/probl20125823-9

Аннотация

Врожденный гиперинсулинизм (ВГИ) - наиболее частая причина персистирующих гипогликемий у детей первого года жизни. Биохимически ВГИ характеризуется неадекватной гиперсекрецией инсулина бета-клетками поджелудочной железы. ВГИ - наследственное заболевание, гетерогенное в отношении как клинических проявлений и гистологических форм, так и молекулярно-генетических дефектов, лежащих в основе данной патологии. Идентифицировано 9 генов, участвующих в развитии ВГИ. Большинство случаев (40-60%) связано с дефектами генов KCNJ11 и ABCC8, кодирующих белки АТФ-зависимых калиевых каналов бета-клеток поджелудочной железы. Около 15-20% случаев связано с активирующими мутациями в генах GCK и GLUD1, участвующих в регуляции внутриклеточного метаболизма глюкозы. В статье представлены результаты клинического, гормонального, молекулярно-генетического и гистологического обследования 42 детей с ВГИ. На основании полученных результатов анализируются взаимосвязи генотип-фенотип.

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Для цитирования:


., ., ., ., ., ., ., ., ., ., . Врожденный гиперинсулинизм. Результаты молекулярно-генетических исследований в российской популяции. Проблемы Эндокринологии. 2012;58(2):3-9. https://doi.org/10.14341/probl20125823-9

For citation:


Melikian M.A., Kareva M.A., Petriaĭkina E.E., Volkov I.É., Aver'ianova I.V., Kolomina I.G., Gurevich L.E., Peterkova V.A., Brusgaard K., Christesen H.T., Dedov I.I. Congenital hyperinsulinism. Results of molecular-genetic investigations in a Russian population. Problems of Endocrinology. 2012;58(2):3-9. (In Russ.) https://doi.org/10.14341/probl20125823-9

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