Клиническая значимость молекулярно-генетического тестирования у детей и подростков с болезнями почек и мочевыводящих путей

Наследственные болезни почек и мочевыводящих путей являются частой причиной развития хронической болезни почек (ХБП) у детей. Прогресс технологий ДНК-анализа привел к значительному повышению эффективности молекулярно-генетических исследований в педиатрической нефрологии. Применение ДНК-диагностики позволяет установить клинико-генетический диагноз заболевания, уточнить патогенез наблюдаемого патологического состояния, определить стратегию персонализированного лечения и наблюдения за пациентом, прогнозировать состояние здоровья ребёнка в будущем, проводить медико-генетическое консультирование родственников больного и т.д. Выявление молекулярных дефектов, лежащих в основе развития наследственных заболеваний почек, открывает пути к разработке новых таргетных препаратов, позволяющих осуществлять коррекцию нефрологических нарушений. Целью обзора является обобщение имеющихся сведений об основных направлениях практического использования ДНК-диагностики в педиатрической нефрологии.

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