nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2024-11-2-74-84nodgo-1042Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSСемейный наследственный эритроцитоз в Чувашской Республике. Обзор литературыHereditary erythrocytosis in the Chuvash Republic. À literature reviewhttps://orcid.org/0000-0003-1921-8774СергеевИ. И.SergeevI. I.

Иван Игоревич Сергеев: ассистент кафедры педиатрии и детской хирургии

428015, Чувашская Республика, Чебоксары, Московский пр-т, 15

Assistant at the Department of Pediatrics and Pediatric Surgery

428015, Chuvash Republic, Cheboksary, Moskovsky Prosp., 15

ivanisergeev@mail.ruhttps://orcid.org/0009-0008-0491-9643БурцевК. Д.BurtsevK. D.

ассистент кафедры травматологии, ортопедии и экстремальной медицины

428015, Чувашская Республика, Чебоксары, Московский пр-т, 15

Assistant at the Department of Traumatology, Orthopedics and Emergency Medicine

428015, Chuvash Republic, Cheboksary, Moskovsky Prosp., 15

kdburcev@gmail.comСметанинаН. С.SmetaninaN. S.

д.м.н., профессор, заместитель генерального директора – директор управления по научно-аналитической работе с регионами 

117997, Москва, ул. Саморы Машела, 1 

Dr. of Sci. (Med.), Professor, Deputy Director General – Director of Regional Scientific and Analytical Work

1 Samory Mashela St., Moscow, 117997

nataly.smetanina@gmail.comФГБОУ ВО «Чувашский государственный университет имени И.Н. Ульянова»РоссияChuvash State University named after I.N. UlyanovRussian FederationФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian Federation2024120820241127484Copyright © Сергеев И.И., Бурцев К.Д., Сметанина Н.С., 20242024Сергеев И.И., Бурцев К.Д., Сметанина Н.С.Sergeev I.I., Burtsev K.D., Smetanina N.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/1042

Данный обзор литературы посвящен актуализации информации об эпидемиологии, клинико-патогенетических, генетических особенностях и подходе к терапии семейного наследственного эритроцитоза (СНЭ) у детей в Чувашской Республике.

В обзоре литературы представлены актуализированные данные о том, что вариант СНЭ с мутацией в гене VHLR200W (598C>T) в Чувашской Республике не имеет ожидаемой связи с VHL-обусловленным синдромом предрасположенности к опухолям и не приводит к повышенной частоте их возникновения. Тромбоз в значительной степени объясняет заболеваемость и смертность от СНЭ, но в случае с чувашской мутацией у пациентов отмечаются сниженные индекс массы тела, уровни систолического артериального давления, содержания глюкозы и гликированного гемоглобина, а также количество лейкоцитов и тромбоцитов по сравнению с контрольными группами. Более высокий уровень гематокрита не является независимым предиктором тромботического риска у детей и взрослых. Кроме того, проспективные рандомизированные исследования продемонстрировали, что флеботомия, выполняемая в целях снижения гематокрита, связана с более высоким тромботическим риском.

The purpose of this review is to update information about the epidemiology, clinical-pathogenetic and genetic characteristics, and therapeutic approach to familial inherited erythrocytosis (FIE) in children in the Chuvash Republic.

This review presents updated data indicating that the variant of congenital polycythemia with the VHLR200W (598C>T) mutation in the Chuvash Republic does not have the expected association with tumor predisposition syndrome induced by VHL and does not lead to an increased frequency of their occurrence. Thrombosis largely explains the morbidity and mortality from congenital erythrocytosis, but patients with the Chuvash mutation show a reduced body mass index, systolic blood pressure levels, glucose and HbA1c levels, and leukocyte and platelet counts compared to control groups. A higher hematocrit level is not an independent predictor of thrombotic risk in children and adults. Moreover, prospective randomized studies have demonstrated that phlebotomy, performed to reduce hematocrit levels, is associated with a higher thrombotic risk.

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