Terapevticheskii arkhivTerapevticheskii arkhivТерапевтический архив0040-36602309-5342LLC Obyedinennaya Redaktsiya3366110.26442/00403660.2019.07.000327Editorial articleПередовая статьяReview ArticleEnzyme replacement therapy in adult patients with type I Gaucher diseaseЗаместительная ферментная терапия у взрослых пациентов с болезнью Гоше I типа: история вопросаPonomarevR VПономаревРодион Викторович

аспирант, врач-гематолог отд-ния орфанных заболеваний ФГБУ «НМИЦ гематологии» Минздрава России

Ponomarev.r.v@icloud.comLukinaE AЛукинаЕлена Алексеевна

д.м.н., проф., зав. отд-нием орфанных заболеваний ФГБУ «НМИЦ гематологии» Минздрава России

National Research Center for HematologyФГБУ «Национальный медицинский исследовательский центр гематологии» Минздрава России15072019917VOL 91, NO7 (2019)ТОМ 91, №7 (2019)12713116042020Copyright ©; 2019, Consilium MedicumCopyright ©; 2019, ООО "Консилиум Медикум"2019Consilium MedicumООО "Консилиум Медикум"https://creativecommons.org/licenses/by-nc-sa/4.0https://ter-arkhiv.ru/0040-3660/article/view/33661

Enzyme replacement therapy (ERT) is the standard for the treatment of Gaucher disease (GD). A lifelong intravenous administration of a recombinant analogue of human glucocerebrosidase compensates for the functional deficiency of its own enzyme. The use of ERT has changed the clinical phenotype of GD, a severe progressive disease has been turned into the status of an asymptomatic metabolic defect. At the same time, a reduced dosing ERT regimen applied in Gaucher patients who had achieved therapeutic goals has not yet been developed.

Заместительная ферментная терапия (ЗФТ) является современным стандартом лечения болезни Гоше (БГ) и заключается в пожизненном внутривенном введении рекомбинантного аналога человеческой глюкоцереброзидазы, компенсирующего функциональную недостаточность собственного фермента. Применение ЗФТ изменило клинический фенотип БГ, переведя тяжелое прогрессирующее заболевание в статус бессимптомного метаболического дефекта. В то же время до сих пор не разработан поддерживающий режим ЗФТ, соответствующий потребности больных, имеющих минимальные остаточные накопления сфинголипидов после длительного периода лечения. Отдельные исследования на эту тему имеют противоречивые результаты.

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