Нарушения нейропсихического развития, обусловленные генетическими дефектами структуры рецепторов глутаматергической системы

Обоснование: в последние десятилетия происходит активное изучение роли дисфункции глутаматных рецепторов в генезе психических расстройств, неврологической и аутоиммунной патологии, онкологических и иных заболеваний. Ведется разработка лекарственных препаратов, воздействующих на глутаматергические рецепторы.

Цель: изложить современные представления о вторичных расстройствах нейропсихического развития (согласно кодификации Международной классификации болезней 11-го пересмотра, блок L1-6E60), ассоциированных с генетически обусловленными нарушениями структуры глутаматергических рецепторов.

Материал и методы: был проведен поиск и анализ описаний случаев нарушенного нейропсихического развития, ассоциированных с генетическими обусловленными дефектами субъединиц ионотропных и метаботропных глутаматных рецепторов в научных библиотеках MEDLINE/Gene database, MEDLINE/PubMed, Online Mendelian Inheritance in Man (OMIM), UniProt, ClinGen, eLibrary.

Заключение: генетически обусловленные нарушения большинства известных ионотропных (GluA, GluN, GluK, GluD) и ряда метаботропных глутаматных рецепторов (mGluR1, 5, 7) ассоциированы с тяжелыми вариантами расстройств нейропсихического развития с манифестом в младенческом периоде и раннем детстве. Представленные разнообразные симптомы определяют транснозологический подход к диагностике и ведению пациентов, требующий привлечения специалистов в области педиатрии, детской психиатрии, неврологии, генетики и медико-социальной реабилитации.

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