Генетические причины врожденных заболеваний почек и верхних мочевыводящих путей. Обзор литературы

Автор: Гарманова Т.Н.

Журнал: Экспериментальная и клиническая урология @ecuro

Статья в выпуске: 2, 2016 года.

Бесплатный доступ

Врожденные аномалии почек и мочевыводящих путей охватывают широкий спектр структурных пороков развития, они являются результатом дефектов в морфогенезе почек и/или мочевыводящих путей. Эти аномалии встречаются у 40-50% детей с хроническим заболеванием почек. Данные, полученные в экспериментах с получением моделей на мышах, показывают, что одиночные мутации генов, регулирующих развитие почек, могут привести к возникновению ВАМПС у людей. Тем не менее, до недавнего времени имелись данные о небольшом количестве генов, мутации в которых являются причиной ВАМПС, большинство из них были обнаружены в семейных синдромальных случаях. Последние данные свидетельствуют о возникновении ВАМПС вследствие мутаций во множестве различных одиночных генов. В настоящее время идентифицированы более 20 генов, мутации в которых вызывают моногенные ВАМПС. Уже существуют готовые панели, предназначенные для тестирования групп генов с помощью высокопроизводительного секвенирования нового по коления для диагностики заболеваний почек и мочевыводящих путей, таких как поликистоз почек, опухоль Вильмса, брахиоторенальный синдром (примеры панелей - KidneySeq™: A Comprehensive Genetic Kidney Disease Panel, Ion AmpliSeq“Inherited Disease Panel target gene list). Секвенирование нового поколения (Next-generation sequencing (NGS)) в комбинации с секвенированием всего экзома, позволило определить новые гены, мутации в которых возможно являются причиной ВАМСП (DSTYK, TRAP1, TNXB). Применение методики высокопроизводительного секвенирования позволяет надеяться, что дополнительные гены, мутации в которых приводят к развитию ВАМПС, будут определены в ближайшее время.

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Врожденные аномалии мочеполовой системы, мутация генов, секвенирование

Короткий адрес: https://sciup.org/142188101

IDR: 142188101

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