vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v20i6S.2371vsp-2791Research ArticleОБМЕН ОПЫТОМEXCHANGE OF EXPERIENCEФерментозаместительная терапия препаратом идурсульфаза больных с мукополисахаридозом, тип II: обзор литературыEnzyme Replacement Therapy with Idursulfase in Patients with Mucopolysaccharidosis Type II: Literature Reviewhttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Вашакмадзе Нато Джумберовна, доктор медицинских наук, руководитель отдела орфанных болезней и профилактики инвалидизирующих заболеваний; профессор кафедры факультетской педиатрии педиатрического факультета 

119333, Москва, ул. Фотиевой, д. 10, к. 1

Moscow

nato-nato@yandex.ruhttps://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalya V.

Москва

Moscow

https://orcid.org/0000-0001-8311-9506ГордееваО. Б.GordeevaOlga B.

Москва

Moscow

https://orcid.org/0000-0001-6000-5418КомароваЕ. В.KomarovaElena V.

Москва

Moscow

https://orcid.org/0000-0003-4680-2925ПриваловаТ. Е.PrivalovaTatyana E.

Москва

Moscow

https://orcid.org/0000-0001-5790-6223РыкуноваА. И.RykunovaAnastasya I.

Москва

Moscow

https://orcid.org/0000-0001-9510-5515БабайкинаМ. А.BabaykinaMarina А.

Москва

Moscow

НИИ педиатрии и охраны здоровья детей ЦКБ РАН; Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАН; Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Medical Genetic Research Center named after N.P. BochkovRussian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАН; Российский национальный исследовательский медицинский университет им. Н.И. Пирогова,РоссияResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”; Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей ЦКБ РАНРоссияResearch Institute of Pediatrics and Children’s Health in “Central Clinical Hospital of the Russian Academy of Sciences”Russian Federation202122122021206s618623Copyright © Вашакмадзе Н.Д., Журкова Н.В., Гордеева О.Б., Комарова Е.В., Привалова Т.Е., Рыкунова А.И., Бабайкина М.А., 20212021Вашакмадзе Н.Д., Журкова Н.В., Гордеева О.Б., Комарова Е.В., Привалова Т.Е., Рыкунова А.И., Бабайкина М.А.Vashakmadze N.D., Zhurkova N.V., Gordeeva O.B., Komarova E.V., Privalova T.E., Rykunova A.I., Babaykina M.А.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/2791

Мукополисахаридоз, тип II (МПС II, синдром Хантера) — это Х-сцепленное наследственное заболевание из группы лизосомных болезней накопления, распространенность которого составляет 3–7 случаев на 1 млн живорожденных мальчиков. МПС II возникает в результате дефицита фермента идуронат-2-сульфатазы вследствие патологических изменений в структуре гена IDS. Дефицит фермента приводит к накоплению гликозаминогликанов (ГАГ) дерматансульфата и гепарансульфата в лизосомах. Последнее обусловливает поражение органов и систем организма с развитием клинической картины заболевания: появление грубых черт лица, рецидивирующие инфекции верхних дыхательных путей, снижение слуха вплоть до полной потери, патология сердечно-сосудистой и дыхательной систем, гепатоспленомегалия, аномалии опорно-двигательного аппарата, низкий рост, поражение центральной нервной системы. Ферментозаместительная терапия препаратом идурсульфаза, внедренная в клиническую практику 15 лет назад, значительно изменила качество жизни пациентов. Идурсульфаза является очищенной формой естественного лизосомного фермента идуронат-2-сульфатазы, полученной с использованием линии клеток человека. Поступление экзогенного фермента способствует катаболизму ГАГ в клетках. В статье приведен анализ результатов зарубежных и отечественных исследований эффективности и безопасности препарата, его влияния на выживаемость больных с МПС II.

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is X-linked hereditary disease from the group of lysosomal storage disease. Its prevalence is 3–7 cases per 1 million live-born boys. MPS II occurs due to the deficiency of iduronate-2-sulfatase enzyme because of pathological changes in the structure of the IDS gene. Enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs), dermatan sulfate and heparan sulfate, in lysosomes. This leads to the damage of various organs and systems in the body with further development of clinical picture of the disease: coarse face, recurrent infections of upper respiratory tract, hearing loss up to deafness, cardiovascular and respiratory systems pathologies, hepatosplenomegaly, musculoskeletal system abnormalities, low growth, central nervous system damage. Enzyme replacement therapy with idursulfase, that was introduced in clinical practice 15 years ago, has significantly changed the quality of life of these patients. Idursulfase is purified form of natural lysosomal enzyme iduronate-2-sulfatase obtained via human cell line. Exogenous enzyme entry promotes GAGs catabolism in cells. This article provides outcomes analysis of foreign and Russian studies on the efficacy and safety of this medication, and its effect on MPS II patients survivability.

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The authors declare that there are no conflicts of interest present.