ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v21i6.2842ppharm-2555Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSСовременные рекомендации по ведению пациентов с болезнью ГошеModern Clinical Guidelines for the Management of Patients with Gaucher DiseaseАнисимоваИ. B.AnisimovaInga V.

Москва

Moscow

БайдаковаГ. В.BaydakovaGalina V.

Москва

Moscow

https://orcid.org/0000-0003-3987-8112БарановА. А.BaranovAleksander A.

Баранов Александр Александрович, доктор медицинских наук, профессор, академик РАН, советник руководителя НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского» Минобрнауки России, главный специалист педиатр Минздрава России, профессор кафедры педиатрии и детской ревматологии ФГАОУ ВО Первый МГМУ им. И.М. Сеченова Минздрава России (Сеченовский Университет), почетный президент Союза педиатров

119333, Москва, ул. Фотиевой, д. 10

Moscow

baranov@pediatr-russia.ruhttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

https://orcid.org/0000-0001-7398-0562ВишневаЕ. А.VishnevaElena A.

Москва

Moscow

https://orcid.org/0000-0001-6381-0367ГундобинаО. С.GundobinaOlga S.

Москва

Moscow

https://orcid.org/0000-0002-3696-3293ДобрынинаЕ. А.DobryninaElena A.

Москва

Moscow

https://orcid.org/0000-0002-2503-2477ЗахароваЕ. Ю.ZaharovaEkaterina Yu.

Москва

Moscow

https://orcid.org/0000-0002-8936-3590КайтуковЕ. В.KaytukovaElena V.

Москва

Moscow

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

Москва

Moscow

https://orcid.org/0000-0002-3133-8018КуцевС. И.KutsevSergey I,

Москва

Moscow

https://orcid.org/0000-0002-0447-214XЛавроваА. Е.LavrovaAlla E.

Нижний Новгород

Nizhny Novgorod

https://orcid.org/0000-0002-2115-985XМихайловаС. В.MihaylovaSvetlana V.

Москва

Moscow

https://orcid.org/0000-0003-2881-4703МовсисянГ. Б.MovsisyanGoar B.

Москва

Moscow

 

https://orcid.org/0000-0002-1861-433XНазаренкоЛ. П.NazarenkoLyudmila P.

Томск

Tomsk

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Москва

Moscow

https://orcid.org/0000-0001-7146-7220НиколаеваЕ. А.NikolaevaEkaterina A.

Москва

Moscow

https://orcid.org/0000-0002-7514-2260ПервунинаТ. М.PervuninaTatiana M.

Санкт-Петербург

Saint Petersburg

https://orcid.org/0000-0002-2445-132XПечатниковаН. Л.PechatnikovaNatalia L.

Москва

Moscow

ПогосянН. С.PogosyanNelya S.

Москва

Moscow

https://orcid.org/0000-0003-4905-2373ПотаповА. С.PotapovAleksander S.

Москва

Moscow

https://orcid.org/0000-0001-6648-2063ПушковА. А.PushkovAleksander A.

Москва

Moscow

https://orcid.org/0000-0001-5244-3901РепинаС. А.RepinaSvetlana A.

Москва

Moscow

https://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovKirill V.

Москва

Moscow

https://orcid.org/0000-0002-3678-7939СелимзяноваЛ. Р.SelimzyanovaLiliya R.

Москва

Moscow

https://orcid.org/0000-0002-3720-8046СмирноваО. Я.SmirnovaOlga Ya.

Москва

Moscow

https://orcid.org/0000-0002-8805-1499СметанинаН. С.SmetaninaNatalia S.

Москва

Moscow

https://orcid.org/0000-0002-0762-0873СтроковаТ. В.StrokovaTatiana V.

Москва

Moscow

https://orcid.org/0000-0002-3697-4283СурковА. Н.SurkovAndrey N.

Москва

Moscow

https://orcid.org/0000-0003-0797-5612ФедосеенкоМ. В.FedoseenkoMarina V.

Москва

Moscow

https://orcid.org/0000-0003-0928-2131БатышеваТ. Т.BatyshevaTatiana T.

Москва

https://orcid.org/0000-0001-6576-1765БыковаО. В.BykovaOlga V.

Москва

Moscow

https://orcid.org/0000-0001-5946-094XКлимовЮ. А.KlimovYuriy A.

Москва

Moscow

ТихоновС. В.TihonovSergey V.

Москва

Moscow

МГНЦ им. акад. Н.П. БочковаРоссияN.P. BoNot declaredchkov Medical Genetics Research CentreRussian FederationМГНЦ им. акад. Н.П. БочковаРоссияN.P. Bochkov Medical Genetics Research CentreRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Первый МГМУ им. И.М. СеченоваРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov First Moscow State Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»РоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of SurgeryRussian FederationПИМУРоссияPrivolzhsky Research Medical UniversityRussian FederationРДКБРоссияRussian Children’s Clinical HospitalRussian FederationНМИЦ здоровья детейРоссияNational Medical Research Center for Children’s HealthRussian FederationНИИ медицинской генетикиРоссияResearch Institute of Medical GeneticsRussian FederationНИКИ педиатрии им. акад. Ю.Е. ВельтищеваРоссияYu. E. Veltischev Research and Clinical Institute for PediatricsRussian FederationНМИЦ им. В.А. АлмазоваРоссияAlmazov National Medical Research CentreRussian FederationМорозовская ДГКБРоссияMorozov Children’s City Clinical HospitalRussian FederationВсероссийское общество орфанных заболеванийРоссияAll-Russian Society of Orphan DiseasesRussian FederationПервый МГМУ им. И.М. Сеченова: НМИЦ здоровья детейРоссияI.M. Sechenov First Moscow State Medical University; National Medical Research Center for Children’s HealthRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Первый МГМУ им. И.М. Сеченова; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov First Moscow State Medical University; Pirogov Russian National Research Medical UniversityRussian FederationНМИЦ ДГОИ им. Дмитрия РогачеваРоссияDmitry Rogachev National Medical Research Center of pediatric Hematology, Oncology and ImmunologyRussian FederationФИЦ питания, биотехнологии и безопасности пищиРоссияFederal Research Centre of Nutrition, Biotechnology and Food SafetyRussian FederationНПЦ детской психоневрологии; ФНМО РУДНРоссияScientific and Practical Center for Pediatric Psychoneurology; Peoples’ Friendship University of RussiaRussian FederationНПЦ детской психоневрологииРоссияScientific and Practical Center for Pediatric PsychoneurologyRussian Federation202410012025216551568Copyright © Анисимова И.B., Байдакова Г.В., Баранов А.А., Вашакмадзе Н.Д., Вишнева Е.А., Гундобина О.С., Добрынина Е.А., Захарова Е.Ю., Кайтуков Е.В., Комарова Е.В., Куцев С.И., Лаврова А.Е., Михайлова С.В., Мовсисян Г.Б., Назаренко Л.П., Намазова-Баранова Л.С., Николаева Е.А., Первунина Т.М., Печатникова Н.Л., Погосян Н.С., Потапов А.С., Пушков А.А., Репина С.А., Савостьянов К.В., Селимзянова Л.Р., Смирнова О.Я., Сметанина Н.С., Строкова Т.В., Сурков А.Н., Федосеенко М.В., Батышева Т.Т., Быкова О.В., Климов Ю.А., Тихонов С.В., 20242024Анисимова И.B., Байдакова Г.В., Баранов А.А., Вашакмадзе Н.Д., Вишнева Е.А., Гундобина О.С., Добрынина Е.А., Захарова Е.Ю., Кайтуков Е.В., Комарова Е.В., Куцев С.И., Лаврова А.Е., Михайлова С.В., Мовсисян Г.Б., Назаренко Л.П., Намазова-Баранова Л.С., Николаева Е.А., Первунина Т.М., Печатникова Н.Л., Погосян Н.С., Потапов А.С., Пушков А.А., Репина С.А., Савостьянов К.В., Селимзянова Л.Р., Смирнова О.Я., Сметанина Н.С., Строкова Т.В., Сурков А.Н., Федосеенко М.В., Батышева Т.Т., Быкова О.В., Климов Ю.А., Тихонов С.В.Anisimova I.V., Baydakova G.V., Baranov A.A., Vashakmadze N.D., Vishneva E.A., Gundobina O.S., Dobrynina E.A., Zaharova E.Y., Kaytukova E.V., Komarova E.V., Kutsev S.I., Lavrova A.E., Mihaylova S.V., Movsisyan G.B., Nazarenko L.P., Namazova-Baranova L.S., Nikolaeva E.A., Pervunina T.M., Pechatnikova N.L., Pogosyan N.S., Potapov A.S., Pushkov A.A., Repina S.A., Savostyanov K.V., Selimzyanova L.R., Smirnova O.Y., Smetanina N.S., Strokova T.V., Surkov A.N., Fedoseenko M.V., Batysheva T.T., Bykova O.V., Klimov Y.A., Tihonov S.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/2555

В статье представлены данные по эпидемиологии, патогенезу, современной классификации и основным клиническим проявлениям болезни Гоше у детей. Приведены критерии дифференциальной диагностики с другими заболеваниями. Показано, что единственным эффективным методом лечения болезни Гоше служит патогенетическая ферментозаместительная терапия, которая купирует основные клинические проявления болезни, улучшает качество жизни больных и не оказывает выраженных побочных эффектов. Указаны основные ошибки диагностики и ведения пациентов, а также необоснованные назначения при лечении этого заболевания.

This article presents data on the epidemiology, pathogenesis, modern classification and the main clinical manifestations of Gaucher disease in children. The criteria for differential diagnosis with other diseases are given. It has been shown that the only effective method of treating Gaucher disease is pathogenetic enzyme replacement therapy, which relieves the main clinical manifestations of the disease, improving the quality of life of patients and without having pronounced side effects. The main errors of diagnosis and management of patients, as well as unjustified prescriptions for the treatment of this disease, are indicated.

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