References

ppharm

Педиатрическая фармакология

Pediatric pharmacology

1727-57762500-3089

Издательство «ПедиатрЪ»

10.15690/pf.v15i4.1947

ppharm-1653

Research Article

ОБЗОР ЛИТЕРАТУРЫ

REVIEW

Современные подходы к лечению синдрома Хантера

Current Approaches to the Treatment of Hunter Syndrome

Захарова

Е. Ю.

Zakharova

Ekaterina Yu.

Захарова Екатерина Юрьевна, доктор медицинских наук, заведующая лабораторией наследственных болезней обмена веществ

Адрес: 125167, Москва, ул. Москворечье, д. 1, тел.: +7 (499) 324-20-04

labnbo@yandex.ru

Воскобоева

Е. Ю.

Voskoboeva

Elena Yu.

Семячкина

А. Н.

Semyachkina

Alla N.

https://orcid.org/0000-0001-8320-2027

Вашакмадзе

Н. Д.

Vashakmadze

Nato D.

Гамзатова

А. И.

Gamzatova

Amina I.

Михайлова

С. В.

Mikhailova

Svetlana V.

Куцев

С. И.

Kutsev

Sergey I.

Медико-генетический научный центр; Российская медицинская академия непрерывного профессионального образованияРоссияMedical Genetics Research Center; Russian Medical Academy of Continuing Professional EducationRussian Federation

Медико-генетический научный центрРоссияMedical Genetics Research CenterRussian Federation

Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева Российского национального исследовательского медицинского университета имени Н.И. Пирогова; Национальный медицинский исследовательский центр здоровья детейРоссияPirogov Russian National Research Medical University; National Medical Research Center of Children’s HealthRussian Federation

Республиканский медико-генетический центрРоссияRepublican Medical Genetic CenterRussian Federation

2018

08102018

154324332

2018

Захарова Е.Ю., Воскобоева Е.Ю., Семячкина А.Н., Вашакмадзе Н.Д., Гамзатова А.И., Михайлова С.В., Куцев С.И.

Zakharova E.Y., Voskoboeva E.Y., Semyachkina A.N., Vashakmadze N.D., Gamzatova A.I., Mikhailova S.V., Kutsev S.I.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.pedpharma.ru/jour/article/view/1653

Мукополисахаридоз, тип II (МПС II; синдром Хантера) — X-сцепленное наследственное заболевание, связанное с дефектом идуронат-2-сульфатазы. Недостаточность этого фермента приводит к накоплению дерматан- и гепарансульфата в разных тканях. Клинические проявления МПС II разнообразны по степени тяжести и вовлечения в патологический процесс различных органов. Выделяют два основных клинических фенотипа — промежуточный и тяжелый вследствие повреждения центральной нервной системы. В обзоре приведены данные по существующим возможностям терапии синдрома Хантера и перспективам развития новых методов лечения. На данном этапе доступны внутривенная ферментная заместительная терапия, трансплантация гемопоэтических стволовых клеток и симптоматическое хирургическое лечение. Внутривенная ферментная заместительная терапия не позволяет ферменту проникнуть через гематоэнцефалический барьер, поэтому неврологические симптомы болезни в результате лечения не компенсируются; трансплантация гемопоэтических стволовых клеток может воздействовать положительно на некоторые неврологические нарушения, но имеет высокий риск посттрансплантационных осложнений. Интратекальное введение фермента, субстратредуцирующая терапия, применение фармакологических шаперонов и генная терапия находятся в стадии изучения и клинических исследований для терапии тяжелых форм МПС II. Крайне необходимо развитие новых подходов к лечению синдрома Хантера и других наследственных болезней с поражением нервной системы в ближайшем будущем.

КОНФЛИКТ ИНТЕРЕСОВ

Авторы подтвердили отсутствие конфликта интересов, о котором необходимо сообщить.

Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked hereditary disorder associated with a deficiency of iduronate2-sulfatase (IDS). IDS deficiency provokes the accumulation of dermatan sulfate and heparan sulfate in different tissues. Clinical manifestations of MPS II are heterogeneous and involve different organs. Two phenotypes are distinguished: attenuated or severe; classification is based on central nervous system impairment signs. The review provides data on the current treatments opportunities for Hunter syndrome and perspectives for development of new therapeutic approaches. Current treatment includes intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation, and symptomatic treatment. Intravenous enzyme replacement therapy does not promote the enzyme to penetrate the blood-brain barrier which leads to the treatment failure for neurological signs and symptoms; hematopoietic stem cell transplantation has high risk of post-transplantation complications but can improve some neurological problems. Intrathecal ERT, substrate reduction, pharmacological chaperones, and gene therapy are currently under investigation as therapies for severe form of MPS II. Development of new approaches to treatment of Hunter syndrome and other hereditary diseases is extremely vital.

синдром Хантерамукополисахаридоз II типаферментная заместительная терапиягенотерапиятрансплантация гемопоэтических стволовых клеток

Hunter syndromemucopolysaccharidosis type IIenzyme replacement therapygene therapyhematopoietic stem cell transplantation

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