vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v23i1.2652vsp-3394Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWСовременный подход к диагностике и лечению болезни Фабри в детском возрастеModern Approach to Fabry Disease Diagnosis and Management in Childrenhttps://orcid.org/0000-0002-3720-8046СмирноваО. Я.SmirnovaOlga Ya.

Смирнова Ольга Яковлевна, старший научный сотрудник отдела стандартизации и изучения основ доказательной медицины 

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soi78@yandex.ruhttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

https://orcid.org/0000-0002-9883-0445КарасеваМ. С.KarasevaMaria S.

Москва

Moscow

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.

Москва

Moscow

https://orcid.org/0000-0003-4832-7451РачковаА. Ю.RachkovaAnna Yu.

Москва

Moscow

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

Москва

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НИИ 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 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»; ГБУЗ «НПЦ ДП ДЗМ»РоссияResearch Institute of Pediatrics and Children’s Health in Petrovsky National Research Centre of Surgery; Research and clinical Centre of Pediatric Psychoneurology Moscow Healthcare DepartmentRussian 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 Federation202425022024231612Copyright © Смирнова О.Я., Вашакмадзе Н.Д., Карасева М.С., Журкова Н.В., Рачкова А.Ю., Намазова-Баранова Л.С., 20242024Смирнова О.Я., Вашакмадзе Н.Д., Карасева М.С., Журкова Н.В., Рачкова А.Ю., Намазова-Баранова Л.С.Smirnova O.Y., Vashakmadze N.D., Karaseva M.S., Zhurkova N.V., Rachkova A.Y., Namazova-Baranova L.S.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/3394

Болезнь Фабри (БФ), или болезнь Андерсена – Фабри, — это редкое наследственное лизосомное заболевание (болезнь накопления сфинголипидов), характеризующееся прогрессирующим мультисистемным поражением. Типичными для детского возраста симптомами являются нейропатическая боль / акропарестезии, ангиокератомы, гипо- либо ангидроз, вихревидная кератопатия. В диагностике заболевания важную роль играют биохимические, молекулярно-генетические методы исследования, а также семейный скрининг. Специфическое патогенетическое лечение БФ заключается в ферментной заместительной терапии (ФЗТ) рекомбинантными препаратами лизосомного фермента -галактозидазы А. Инициация ФЗТ до формирования тяжелого поражения органов и систем способствует ее более высокой эффективности. В статье обсуждаются различные аспекты патогенеза, особенности клинической картины в детском возрасте, современные методы диагностики и лечения БФ на основании литературных данных.

Fabry disease (FD), or Andersen-Fabry disease, is a rare hereditary lysosomal disease (sphingolipids storage disease) characterized by progressive multisystem involvement. The major symptoms among children are neuropathic pain / acroparesthesia, angiokeratomas, hypo- or anhidrosis, vortex keratopathy. Biochemical tests, molecular genetic testing, and family screening play crucial role in the diagnosis of the disease. Specific pathogenetic treatment of FD includes enzyme replacement therapy (ERT) with recombinant medications of the lysosomal enzyme -galactosidase A. ERT initiation before the development of severe organs and systems’ damage contributes to its higher efficacy. This article covers various aspects of pathogenesis, clinical picture features in childhood, modern methods of diagnosis and management of FD according to literature data.

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