ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v19i4.2443ppharm-2192Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSСовременные подходы к ведению детей с мукополисахаридозом I типаModern Approaches to the Management of Children with Mucopolysaccharidosis Type IБайдаковаГ. В.BaidakovaGalina V.

Москва.

Moscow. 

БарановА. А.BaranovAlexander A.

Москва.

Moscow.

ВахловаИ. В.VakhlovaIrina V.

Екатеринбург.

Yekaterinburg.

ВашакмадзеН. Д.VashakmadzeNato D.

Москва.

Moscow.

ВоскобоеваЕ. Ю.VoskoboevaElena Yu.

Москва.

Moscow.

ЗахароваЕ. Ю.ZakharovaEkaterina Yu.

Москва.

Moscow.

КузенковаЛ. М.KuzenkovaLudmila M.

Москва.

Moscow.

КуцевС. И.KutsevSergey I.

Москва.

Moscow.

ЛарионоваВ. И.LarionovaValentina I.

Санкт-Петербург.

Saint Petersburg.

ЛобжанидзеТ. В.LobzhanidzeTina V.

Москва.

Moscow.

МихайловаЛ. К.MikhailovaLudmila K.

Москва.

Moscow.

МихайловаС. В.MikhailovaSvetlana V.

Москва.

Moscow.

МоисеевС. В.MoiseevSergey V.

Москва.

Moscow.

Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Намазова-Баранова Лейла Сеймуровна - доктор медицинских наук, профессор, академик РАН, заведующая кафедрой факультетской педиатрии педиатрического факультета РНИМУ им. Н.И. Пирогова Минздрава России; руководитель НИИ педиатрии и охраны здоровья детей НКЦ №2 РНЦХ им. акад. Б.В. Петровского, президент Союза педиатров России.

119333, Москва, ул. Фотиевой, д. 10.

тел.: +7 (499) 400-47-33

Moscow; Belgorod.

lsnamazova@yandex.ruНикитинС. С.NikitinSergey S.

Москва.

Moscow.

ПечатниковаН. Л.PechatnikovaNatalya L.

Москва.

Moscow.

ПоляковаО. А.PolyakovaOlga A.

Москва.

Moscow.

СемячкинаА. Н.SemyachkinaAlla N.

Москва.

Moscow.

УдаловаО. В.UdalovaOlga V.

Нижний Новгород.

Nizhny Novgorod.

МГНЦ им. академика Н.П.БочковаРоссияMedical Genetic Research Center named after N.P. BochkovRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 РНЦХ им. акад. Б.В. Петровского; Первый МГМУ им. И.М. Сеченова (Сеченовский Университет)РоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Sechenov First Moscow State Medical UniversityRussian FederationУральский государственный медицинский университетРоссияUral State Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 РНЦХ им. акад. Б.В. Петровского; РНИМУ им. Н.И. ПироговаРоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationПервый МГМУ им. И.М. Сеченова (Сеченовский Университет); НМИЦ здоровья детейРоссияSechenov First Moscow State Medical University; National Medical Research Center for Children's HealthRussian FederationИнститут экспериментальной медициныРоссияInstitute of Experimental EducationRussian FederationГородская клиническая больница № 64 ДЗМРоссияCity clinical hospital № 64Russian FederationНМИЦ травматологии и ортопедии имени Н.Н. ПриороваРоссияNational Medical Research Center for Traumatology and Orthopedics named after N.N. PriorovRussian FederationРоссийская детская клиническая больницаРоссияRussian Children’s Clinical HospitalRussian FederationПервый МГМУ им. И.М. Сеченова (Сеченовский Университет)РоссияSechenov First Moscow State Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 РНЦХ им. акад. Б.В. Петровского; РНИМУ им. Н.И. Пирогова; Белгородский государственный национальный исследовательский университетРоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University; Belgorod National Research UniversityRussian FederationОбщество специалистов по нервно-мышечным заболеваниямРоссияAssociation of neuro-muscular disorders specialistsRussian FederationМорозовская детская городская клиническая больницаРоссияMorozov Children’s City HospitalRussian FederationМосковский НИИ педиатрии и детской хирургииРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric SurgeryRussian FederationПИМУРоссияPrivolzhsky Research Medical UniversityRussian Federation202204102022194342353Copyright © Байдакова Г.В., Баранов А.А., Вахлова И.В., Вашакмадзе Н.Д., Воскобоева Е.Ю., Захарова Е.Ю., Кузенкова Л.М., Куцев С.И., Ларионова В.И., Лобжанидзе Т.В., Михайлова Л.К., Михайлова С.В., Моисеев С.В., Намазова-Баранова Л.С., Никитин С.С., Печатникова Н.Л., Полякова О.А., Семячкина А.Н., Удалова О.В., 20222022Байдакова Г.В., Баранов А.А., Вахлова И.В., Вашакмадзе Н.Д., Воскобоева Е.Ю., Захарова Е.Ю., Кузенкова Л.М., Куцев С.И., Ларионова В.И., Лобжанидзе Т.В., Михайлова Л.К., Михайлова С.В., Моисеев С.В., Намазова-Баранова Л.С., Никитин С.С., Печатникова Н.Л., Полякова О.А., Семячкина А.Н., Удалова О.В.Baidakova G.V., Baranov A.A., Vakhlova I.V., Vashakmadze N.D., Voskoboeva E.Y., Zakharova E.Y., Kuzenkova L.M., Kutsev S.I., Larionova V.I., Lobzhanidze T.V., Mikhailova L.K., Mikhailova S.V., Moiseev S.V., Namazova-Baranova L.S., Nikitin S.S., Pechatnikova N.L., Polyakova O.A., Semyachkina A.N., Udalova O.V.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/2192

В статье представлены современные сведения об эпидемиологии, этиологии и клинических проявлениях мукополисахаридоза (МПС) I типа у детей. МПС развивается в результате дефицита того или иного лизосомального фермента, что определяет тип болезни. В статье подробно рассмотрены вопросы патогенеза и классификации заболевания. Освещены основанные на доказательной медицине подходы к диагностике, в том числе дифференциальной, особое внимание уделено патогенетическому, симптоматическому, хирургическому лечению МПС.

This article presents modern data on epidemiology, etiology, and clinical manifestations of mucopolysaccharidosis (MPS) type I in children. MPS develops due to deficiency of particular lysosomal enzyme which determines the disease type. The article considers in details disease's pathogenesis and classification. Evidence-based approaches to diagnosis (differential diagnosis included) are covered, moreover, special attention is paid to pathogenetic, symptomatic, and surgical treatment of MPS.

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