Синдром Альпорта: современные представления
https://doi.org/10.36485/1561-6274-2021-25-3-75-83
Аннотация
Синдром Альпорта – мультисистемное заболевание, связанное с мутациями в генах COL4A3, COL4A4, COL4A5. Основным проявлением синдрома Альпорта является прогрессирующая нефропатия, приводящая к развитию почечной недостаточности, в том числе у женщин с Х-сцепленным вариантом наследования. Фенотипическая гетерогенность, неблагоприятный прогноз заболевания обуславливают необходимость его ранней диагностики путем внедрения генетического обследования пациентов с целью раннего назначения нефропротективной терапии, уменьшающей темпы прогрессирования нефропатии. В статье представлены: этиология, патогенез, генотип-фенотипические особенности синдрома Альпорта, экспертные клинические рекомендации по обследованию пациентов с персистирующей гломерулярной гематурией и ведению пациентов с синдромом Альпорта.
Об авторе
М. Е. Аксенова
Отдел наследственных и приобретенных болезней почек имени профессора М.С. Игнатовой, НИКИ педиатрии имени академика Ю.Е. Вельтищева, Российский национальный исследовательский медицинский университет им. Н.И. Пирогова
Россия
Россия
Аксенова Марина Евгеньевна, канд. мед. наук, ведущий научный сотрудник
125412, Москва, ул. Талдомская, д. 2.
Тел.: 8 495 4832183, 89166148139
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Рецензия
Для цитирования:
Аксенова М.Е. Синдром Альпорта: современные представления. Нефрология. 2021;25(3):75-83. https://doi.org/10.36485/1561-6274-2021-25-3-75-83
For citation:
Aksenova M.E. Alport syndrome: our knowledge update. Nephrology (Saint-Petersburg). 2021;25(3):75-83. (In Russ.) https://doi.org/10.36485/1561-6274-2021-25-3-75-83
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