bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.18821/0234-5730/2016-61-4-217-221bloodjour-39Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCASE REPORTSОсобенности диагностики синдрома Бернара–СульеFeatures of diagnostics of Bernard–Soulier syndromehttps://orcid.org/0000-0002-2477-3011КумсковаМ. А.KumskovaM. A.

Кумскова Мария Алексеевна, врач-гематолог научно-консультативного отдела коагулопатий; Scopus Author ID: 36651226000, Researcher ID: A-7994-2016.

126167, г. Москва

Kumskova Maria A., hematologist; Scopus Author ID: 36651226000, Researcher ID: A-7994-2016.

Moscow, 125167

kumskova.m@blood.ruЯструбинецкаяО. И.YastrubinetskayaO. I.

Scopus Author ID: 26424146000

126167, г. Москва

Scopus Author ID: 26424146000

Moscow, 125167

ЛихачеваЕ. А.LikhachyovaE. A.

Scopus Author ID: 7004371191

126167, г. Москва

Scopus Author ID: 7004371191

Moscow, 125167

ВасильевС. А.VasilievS. A.

Scopus Author ID: 36973343200

126167, г. Москва

Scopus Author ID: 36973343200

Moscow, 125167

ДвирныкВ. Н.DvirnykV. N.

Scopus Author ID: 36503832100

126167, г. Москва

Scopus Author ID: 36503832100

Moscow, 125167

КоняшинаН. И.KonyashinaN. I.

Scopus Author ID: 36650927000

126167, г. Москва

Scopus Author ID: 36650927000

Moscow, 125167

https://orcid.org/0000-0002-6702-9575Аль-РадиЛ. С.Al-RadiL. S.

Researcher ID: I-2390-2016, Scopus Author ID: 6506792955

126167, г. Москва

Researcher ID: I-2390-2016, Scopus Author ID: 6506792955.

Moscow, 125167

МоисееваТ. Н.MoiseevaT. N.

Scopus Author ID: 7004165307

126167, г. Москва

Scopus Author ID: 7004165307

Moscow, 125167

https://orcid.org/0000-0001-7074-0926ЗозуляН. И.ZozulyaN. I.

Researcher ID: N-3151-2014, Scopus Author ID: 24451501900

126167, г. Москва

Researcher ID: N-3151-2014, Scopus Author ID: 24451501900.

Moscow, 125167

ФГБУ «Гематологический научный центр Минздрава России»РоссияNational Research Center for HematologyRussian Federation201628022019614217221Copyright © Кумскова М.А., Яструбинецкая О.И., Лихачева Е.А., Васильев С.А., Двирнык В.Н., Коняшина Н.И., Аль-Ради Л.С., Моисеева Т.Н., Зозуля Н.И., 20192019Кумскова М.А., Яструбинецкая О.И., Лихачева Е.А., Васильев С.А., Двирнык В.Н., Коняшина Н.И., Аль-Ради Л.С., Моисеева Т.Н., Зозуля Н.И.Kumskova M.A., Yastrubinetskaya O.I., Likhachyova E.A., Vasiliev S.A., Dvirnyk V.N., Konyashina N.I., Al-Radi L.S., Moiseeva T.N., Zozulya N.I.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.htjournal.ru/jour/article/view/39

Синдром Бернара–Сулье (СБС) – одна из редких форм наследственных тромбоцитопатий. Основой патогенеза СБС является дефицит или дефект гликопротеинового комплекса GPIb-IX–V на поверхности тромбоцитов – главного тромбоцитарного рецептора для фактора Виллебранда (vWF). При связывании vWFс комплексом GPIb-IX–V происходят инициация первичного гемостаза и обеспечение адгезии тромбоцитов в месте повреждения сосуда. Диссоциация плазменного, сосудистого и тромбоцитарного звеньев коагуляции приводит к развитию геморрагического синдрома микроциркуляторного или смешанного типов, характерные особенности которых описаны в клиническом случае больной СБС. Алгоритм диагностики СБС включает в себя оценку функциональных свойств, морфологии и биохимических характеристик тромбоцитов с обязательным использованием метода проточной цитофлюометрии, позволяющего выявить дефицит комплекса GPIb-IX–V на поверхности тромбоцитов.

Bernard–Soulier syndrome (BSS) is the rare platelet disorder. It is caused by the deficiency or defect of the glycoprotein (GP) Ib-IX-V complex on the surface of platelets – the main receptor for von Willebrand factor (vWF). Binding of vWF with GP Ib-IX-V complex initiates primary hemostasis and provides platelets adhesion at the site of the injured blood vessel. Dissociation of plasma, vascular and thrombocytic hemostasis gives rise to the development of the microcirculatory or mixed hemorrhagic syndrome. The typical features of such types are considered in the clinical case of the BSS female patient. Diagnostic algorithm for BSS includes the evaluation of functional properties, morphology and biochemical characteristics of platelets with the compulsory use of flow cytometry, allowing to reveal the deficiency of GP Ib-IX-V complex on the surface of platelets.

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