Cовременные представления о клинике, диагностике и терапии болезни Фабри
https://doi.org/10.25557/2073-7998.2021.06.3-13
Аннотация
Обзор литературы посвящён болезни Фабри (БФ) - редкому наследственному заболеванию. В нем представлен всесторонний анализ современных эпидемиологических данных и особенностей этиопатогенеза БФ, а также даны клинико-патогенетические характеристики различных типов БФ. Подробно описана роль фермента α-галактозидазы А и биомаркера глоботриаозилсфингозина (лизо-Гб3) при БФ. Изложены и указаны ключевые этапы биохимического и молекулярно-генетического поиска в диагностике данной патологии, описаны современные возможности терапии.
Об авторах
Н. Н. Мазанова
ФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава России; ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)
Россия
Россия
А. Ю. Асанов
ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)
Россия
Россия
М. И. Баканов
ФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава России
Россия
Россия
И. Ю. Чебеляев
ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)
Россия
Россия
К. В. Савостьянов
ФГАУ «Национальный Медицинский Исследовательский Центр здоровья детей» Минздрава России
Россия
Россия
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Рецензия
Для цитирования:
Мазанова Н.Н., Асанов А.Ю., Баканов М.И., Чебеляев И.Ю., Савостьянов К.В. Cовременные представления о клинике, диагностике и терапии болезни Фабри. Медицинская генетика. 2021;20(6):3-13. https://doi.org/10.25557/2073-7998.2021.06.3-13
For citation:
Mazanova N.N., Asanov A.Yu., Bakanov M.I., Chebelyaev I.G., Savostyanov K.V. Modern ideas about the clinic, diagnosis and therapy of Fabry disease. Medical Genetics. 2021;20(6):3-13. (In Russ.) https://doi.org/10.25557/2073-7998.2021.06.3-13
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