Заключение

Хотя болезнь Фабри относится к редким наследственным заболеваниям, его достаточно часто диагностировали у взрослых мужчин и женщин с гипертрофией миокарда левого желудочка. Соответственно, у пациентов с диагнозом гипертрофической кардиомиопатии целесообразно исключать болезнь Фабри. Для этого у мужчин определяют активность a-галактозидазы А, а у женщин проводят генотипирование. При отсутствии гипертрофии левого желудочка у пациентов с клиническими признаками поражения сердца (сердечная недостаточность, нарушения ритма и проводимости) болезнь Фабри следует подозревать при наличии системных проявлений, особенно возникших в детском возрасте (акропарестезии, ангиокератомы, мочевой синдром, почечная недостаточность и др.). Заместительная терапия рекомбинантными препаратами a-галактозидазы А позволяет уменьшить массу гипертрофированного левого желудочка и затормозить развитие гипертрофии миокарда, а также оказывает благоприятное влияние на других проявления болезни Фабри.

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