Болезнь Фабри


Е.А. Кольцова (1, 2), Е.И. Кимельфельд (1), Л.В. Стаховская (1, 2)

(1) Кафедра фундаментальной и клинической неврологии и нейрохирургии ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России, Москва (2) НИИ цереброваскулярной патологии и инсульта, Москва
Болезнь Фабри – полисистемная патология, обусловленная генетическим дефектом гена α-галактозидазы А, имеющая Х-сцепленный характер наследования. Клинические проявления заболевания связаны с прогрессивным накоплением гликосфинголипидов (глоботри-озилцерамида – Gb3) в клетках почечных клубочков и канальцев, кардиомиоцитах, фиброцитах клапанов сердца, нейронах, вегетативных ганглиях, эндотелии, поперечнополосатых и гладкомышечных клетках и развитием полиорганной недостаточности. При болезни Фабри гетерозиготные женщины могут либо не иметь клинических проявлений заболевания, либо, напротив, страдать так же тяжело, как гемизиготные мужчины. Диагностика заболевания основана на комплексной оценке клинического полиморфизма, определении активности фермента α-галактозидазы А в крови и проведении молекулярно-генетических исследований. Своевременная диагностика и раннее начало заместительной терапии позволяют добиваться замедления прогрессирования полиорганной недостаточности и значительного улучшения качества жизни пациентов.

Литература


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Об авторах / Для корреспонденции


Автор для связи: Е.А. Кольцова – кафедра фундаментальной и клинической неврологии и нейрохирургии ФГБОУ ВО РНИМУ
им. Н.И. Пирогова Минздрава России, Москва; e-mail: koltsovaevgenia@rambler.ru


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