nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2020-7-3-54-63nodgo-625Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSРедкие коагулопатииRare bleeding disordershttps://orcid.org/0000-0003-4555-9337ФлоринскийД. Б.FlorinskiyD. B.

Дмитрий Борисович Флоринский, врач-ординатор

117997, Москва, ул. Саморы Машела, 1

Resident in Pediatrics

1 Samory Mashela St., Moscow, 117997

mitia94@yandex.ruhttps://orcid.org/0000-0003-4384-6754ЖарковП. А.ZharkovP. A.

Доктор медицинских наук, врач-гематолог консультативного отделения, врач-педиатр стационара кратковременного лечения, руководитель группы исследования гемостаза

117997, Москва, ул. Саморы Машела, 1

Dr. of Sci. (Med.), Hematologist Advisory Unit, Short-Term Hospital Pediatrician, Head of the Hemostasis Research Group

1 Samory Mashela St., Moscow, 117997

pavel.zharkov@fccho-moscow.ruФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian Federation202020092020735463Copyright © Флоринский Д.Б., Жарков П.А., 20202020Флоринский Д.Б., Жарков П.А.Florinskiy D.B., Zharkov P.A.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/625

Редкие коагулопатии включают в себя наследственные дефициты фибриногена, факторов (F) II, FV, FVII, FX, FXI, FXII и FV + FVIII, а также комбинированный дефицит витамина К-зависимых факторов. Какие-то из данных дефицитов являются более изученными в связи с большим числом пациентов, какие-то дефициты остаются крайне редкими, поэтому на данном этапе для них представляется достаточно сложной проблемой выработка универсального подхода к терапии и профилактике. Задачей данного обзора было оценить частоту, клиническую картину, генетическую основу, возможности и сложности диагностики данных дефицитов.

Rare bleeding disorders include inherited deficiencies of fibrinogen, factors (F) II, FV, FVII, FX, FXI, FXII, and FV + FVIII, as well as a multiple deficiency of vitamin K-dependent coagulation factors. Some of these deficiencies are more studied, due to the large number of patients, some are extremely rare, so at this stage it is quite difficult for them to develop a universal approach to therapy and prophylactic treatment. The purpose of this review was to evaluate the frequency, clinical manifestations, genetic basis, possibilities and difficulties of diagnosis for these deficiencies.

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