Наследственный фактор метафилактики мочекаменной болезни: современное состояние вопроса

Наследственный фактор метафилактики мочекаменной болезни: современное состояние вопроса

Автор: Тивтикян А.С., Савилов А.В., Охоботов Д.А., Тарасова А.А., Шершнев С.П., Самоходская Л.М., Стригунов А.А., Афанасьевская Е.В., Нестерова О.Ю., Камалов А.А.

Журнал: Экспериментальная и клиническая урология @ecuro

Рубрика: Мочекаменная болезнь

Статья в выпуске: 1 т.15, 2022 года.

Бесплатный доступ

Введение. Мочекаменная болезнь является одним из наиболее распространенных урологических заболеваний. До 50% пациентов, перенесших первый эпизод нефролитиаза, встречаются с рецидивом в течение первых 10 лет, что поднимает вопрос о необходимости метафилактики данного заболевания. При этом следует учитываться генетическую предрасположенность каждого пациента. Цель: на основе анализа литературных данных определить роль генетических факторов в развитии нефролитиаза и выявить возможности метафилактики мочекаменной болезни у пациентов с наследственным фактором. Материалы и методы. На основе анализа литературных данных, опубликованных в базах MEDLINE, EMBASE, DisGeNET, OMIM, изучены работы, посвященные наследственным факторам развития мочекаменной болезни, проведена оценка методов метафилактики различных вариантов этого заболевания. Поиск производился по ключевым словам: «генетические факторы развития мочекаменной болезни», «генетические риски идиопатического нефролитиаза», «полиморфизмы рецептора витамина D и мочекаменная болезнь». За период с 1995 по 2020 год была найдена 141 статья, относящаяся к теме обзора. В результате детальной проверки достоверности источников непосредственно для цитирования были отобраны 70 статей. Результаты. Нефролитиаз является многофакторным заболеванием, вклад в развитие которого вносят полиморфизмы различных генов. В настоящее время наибольшее значение в развитии кальций-оксалатного и кальций-фосфатного нефролитиаза придается мутациям генов SPP1, CaSR, CLDN14, VDR, KL, в развитии уратного нефролитиаза - SCL2A9. В результате различных генетических сочетаний данные мутации способны усиливать формирование камней за счет влияния на обмен кальция, фосфатов и уратов, блокировки синтеза ингибиторов камнеобразования, а также на выраженность воспаления, окислительного стресса, которые часто являются пусковым механизмом развития рецидива мочекаменной болезни. Выводы. Определение генетических маркеров метафилактики мочекаменной болезни позволит учитывать дополнительные риски развития рецидивов мочекаменной болезни в послеоперационном периоде, либо выявить пациентов в группах риска в эндемичных условиях

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Мочекаменная болезнь, нефролитиаз, генетические факторы развития мочекаменной болезни, метафилактика мочекаменной болезни

Короткий адрес: https://sciup.org/142234568

IDR: 142234568

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