Современный подход к диагностике и лечению болезни Фабри в детском возрасте

Болезнь Фабри (БФ), или болезнь Андерсена – Фабри, — это редкое наследственное лизосомное заболевание (болезнь накопления сфинголипидов), характеризующееся прогрессирующим мультисистемным поражением. Типичными для детского возраста симптомами являются нейропатическая боль / акропарестезии, ангиокератомы, гипо- либо ангидроз, вихревидная кератопатия. В диагностике заболевания важную роль играют биохимические, молекулярно-генетические методы исследования, а также семейный скрининг. Специфическое патогенетическое лечение БФ заключается в ферментной заместительной терапии (ФЗТ) рекомбинантными препаратами лизосомного фермента -галактозидазы А. Инициация ФЗТ до формирования тяжелого поражения органов и систем способствует ее более высокой эффективности. В статье обсуждаются различные аспекты патогенеза, особенности клинической картины в детском возрасте, современные методы диагностики и лечения БФ на основании литературных данных.

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