ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v13i3.1574ppharm-1423Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSВедение детей с болезнью Гоше. Современные клинические рекомендацииManaging Children with Gaucher Disease: Modern Clinical RecommendationsБарановА. А.BaranovA. A.Намазова-БарановаЛ. С.Namazova-BaranovaL. S.ГундобинаО. С.GundobinaO. S.

кандидат медицинских наук, заведующая отделением восстановительного лечения детей с болезнями органов пищеварительной системы НИИ педиатрии НЦЗД Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, тел.: +7 (499) 134-01-69

gundobina@nczd.ruЛукинаЕ. А.LukinaE. A.ГеворкянА. К.GevorkyanA. K.СавостьяновК. В.SavostyanovK. V.ПушковА. А.PushkovA. A.ВишнёваЕ. А.VishnyovaE. A.МовсисянГ. Б.MovsisyanG. B.Научный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская Федерация Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian Federation Pirogov Russian National Research Medical University, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian FederationRussian FederationГематологический научный центр, Москва, Российская ФедерацияРоссияHematology Scientific Center, Moscow, Russian FederationRussian FederationНаучный центр здоровья детей, Москва, Российская Федерация Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва, Российская ФедерацияРоссияScientific Center of Children’s Health, Moscow, Russian Federation Pirogov Russian National Research Medical University, Moscow, Russian FederationRussian Federation201630082016133244250Copyright © Баранов А.А., Намазова-Баранова Л.С., Гундобина О.С., Лукина Е.А., Геворкян А.К., Савостьянов К.В., Пушков А.А., Вишнёва Е.А., Мовсисян Г.Б., 20162016Баранов А.А., Намазова-Баранова Л.С., Гундобина О.С., Лукина Е.А., Геворкян А.К., Савостьянов К.В., Пушков А.А., Вишнёва Е.А., Мовсисян Г.Б.Baranov A.A., Namazova-Baranova L.S., Gundobina O.S., Lukina E.A., Gevorkyan A.K., Savostyanov K.V., Pushkov A.A., Vishnyova E.A., Movsisyan G.B.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/1423

Статья посвящена болезни Гоше — достаточно редкой наследственной патологии. Авторами представлены современные эпидемиологические данные и особенности этиопатогенеза болезни Гоше, даны клинические характеристики различных типов данной нозологии. Подробно описан алгоритм и указаны ключевые этапы дифференциально-диагностического поиска. Тщательно изложены тактика и алгоритмы назначения ферментозаместительной терапии — патогенетического лечения данной наследственной ферментопатии, а также современные схемы ведения пациентов в соответствии с этапами оказания медицинской помощи.

The focus of this article is Gaucher disease — a rare enough hereditary pathology. The authors present the most up-to-date epidemiological data and features of Gaucher disease etiopathogenesis. They offer clinical characteristics for the various types of this disease. The algorithm and crucial steps of differential diagnosis are described in detail. Also, the tactic and algorithms of enzymereplacing therapy (pathogenetic treatement of this hereditary enzymopathy) are carefully presented, together with the modern scheme of managing patients according to the corresponding health care delivery stages.

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