bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.35754/0234-5730-2026-71-2-258-270bloodjour-770Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCASE REPORTSТромбоцитарные нарушения гемостаза: как прийти к диагнозу?Platelet hemostatic disorders: how to reach a diagnosis?https://orcid.org/0000-0002-6991-7437ЯковлеваЕ. В.YakovlevaE. V.

Яковлева Елена Владимировна, кандидат медицинских наук, гематолог клинико-диагностического отделения гематологии и нарушений гемостаза

125167, г. Москва

Elena V. Yakovleva, Cand. Sci. (Med.), Hematologist, Clinical and Diagnostic Department of Hematology and Hemostasis Disorders

125167, Moscow

hemophilia2012@mail.ruhttps://orcid.org/0009-0009-5179-7455ПавленкоД. В.PavlenkoD. V.

Павленко Диана Владимировна, врач клинической лабораторной диагностики централизованной клинико-диагностической лаборатории

125167, г. Москва

Diana V. Pavlenko, Clinical Laboratory Diagnostic Doctor of the Centralized Clinical Diagnostic Laboratory

125167, Moscow

diana-pa@mail.ruhttps://orcid.org/0000-0002-9877-0796ДвирныкВ. Н.DvirnykV. N.

Двирнык Валентина Николаевна, кандидат медицинских наук, заведующая централизованной клинико-диагностической лабораторией

125167, г. Москва

Valentina N. Dvirnyk, Cand. Sci. (Med.), Head of the Laboratory, Clinical Laboratory Diagnostics Physician at the Centralized Clinical and Diagnostic Laboratory

125167, Moscow

dvirnyk.v@blood.ruhttps://orcid.org/0000-0003-2197-7358ТрацевскаяЖ. В.TratevskayaZh. V.

Трацевская Жанна Викторовна, кандидат медицинских наук, патологоанатом патологоанатомического отделения

125167, г. Москва

Zhanna V. Tratsevskaya, Cand. Sci. (Med.), Pathologist, Pathological Anatomy Department

125167, Moscow

tratsevskaya.zh@yandex.ruhttps://orcid.org/0000-0002-1082-8659КовригинаА. М.KovriginaA. M.

Ковригина Алла Михайловна, доктор биологических наук, заведующая патолого-анатомическим отделением

125167, г. Москва

Alla M. Kovrigina, Dr. Sci. (Biol.), Head of the Pathology Department

125167, Moscow

kovrigina.alla@gmail.comhttps://orcid.org/0000-0001-5752-8146ПшеничниковаО. С.PshenichnikovaO. S.

Пшеничникова Олеся Сергеевна, кандидат биологических наук, заведующая лабораторией генной инженерии

125167, г. Москва

Olesya S. Pshenichnikova, Cand. Sci. (Biol.), Head of Laboratory of Genetic Engineering

125167, Moscow

pshenichnikovaolesya@gmail.comhttps://orcid.org/0000-0002-1890-4492СуринВ. Л.SurinV. L.

Сурин Вадим Леонидович, старший научный сотрудник лаборатории генной инженерии

125167, г. Москва

Vadim L. Surin, Senior Researcher, Laboratory of Genetic Engineering

125167, Moscow

vadsurin@mail.ruhttps://orcid.org/0000-0001-8964-220XПозняковаЮ. М.PoznyakovaJ. M.

Познякова Юлия Михайловна, ведущий специалист группы сопровождения генетической диагностики

125167, г. Москва

Yulia M. Poznyakova, Leading Specialist, Genetic Diagnostics Support Team

125167, Moscow

y.poznyakova@mail.ruhttps://orcid.org/0009-0007-3456-9616ЮшковаЕ. В.YushkovaE. V.

Юшкова Евгения Вячеславовна, лаборант-исследователь лаборатории клеточного гемостаза и тромбоза; аспирант

117198, г. Москва

109029, г. Москва

Eugenia V. Yushkova, Laboratory Assistant Researcher, the Laboratory of Cellular Hemostasis and Thrombosis; Postgraduate Student

 117198, Moscow

109029, Moscow

eugenia.yushkova@gmail.comhttps://orcid.org/0000-0001-8013-1112ПодоплеловаН. А.PodoplelovaN. A.Подоплелова Надежда Александровна, кандидат биологических наук, ведущий научный сотрудник лаборатории клеточного гемостаза и тромбоза; заведующая Центром коллективного пользования научным оборудованием

117198, г. Москва

109029, г. Москва

Nadezhda A. Podoplelova, Cand. Sci. (Biol.), Leading researcher, the Laboratory of Cellular Hemostasis and Thrombosis; Head of Collective Use Center “Modern methods of experimental biophysics”

 117198, Moscow

109029, Moscow

podoplelovan@yandex.ruhttps://orcid.org/0000-0001-7074-0926ЗозуляН. И.ZozulyaN. I.

Зозуля Надежда Ивановна, доктор медицинских наук, заведующая клинико-диагностическим отделением гематологии и нарушений гемостаза

125167, г. Москва

Nadezhda I. Zozulya, Dr. Sci. (Med.), Hematologist, Head of Clinical and Diagnostic Department of Hematology and Hemostasis Disorders

125167, Moscow

zozulya.n@blood.ruФГБУ «Национальный медицинский исследовательский центр гематологии» Министерства здравоохранения Российской ФедерацииРоссияNational Medical Research Center for HematologyRussian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии имени Дмитрия Рогачева» Министерства здравоохранения Российской Федерации; ФГБУН «Центр теоретических проблем физико-химической фармакологии» Российской академии наукРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology; Center “Modern methods of experimental biophysics” of the Center for Theoretical Problems of Physicochemical Pharmacology of the RASRussian Federation202617072026712258270Copyright © Яковлева Е.В., Павленко Д.В., Двирнык В.Н., Трацевская Ж.В., Ковригина А.М., Пшеничникова О.С., Сурин В.Л., Познякова Ю.М., Юшкова Е.В., Подоплелова Н.А., Зозуля Н.И., 20262026Яковлева Е.В., Павленко Д.В., Двирнык В.Н., Трацевская Ж.В., Ковригина А.М., Пшеничникова О.С., Сурин В.Л., Познякова Ю.М., Юшкова Е.В., Подоплелова Н.А., Зозуля Н.И.Yakovleva E.V., Pavlenko D.V., Dvirnyk V.N., Tratevskaya Z.V., Kovrigina A.M., Pshenichnikova O.S., Surin V.L., Poznyakova J.M., Yushkova E.V., Podoplelova N.A., Zozulya N.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.htjournal.ru/jour/article/view/770Введение

Введение. Тромбоцитопения может быть первичной и является поводом для дифференциальной диагностики наследственных функциональных дефектов тромбоцитов.

Цель

Цель: представить трудности верификации диагноза при нарушении тромбоцитарного звена гемостаза.

Основные сведения

Основные сведения. Представлено клиническое наблюдение за 28-летней больной, обратившейся в связи со скудным кожно-слизистым геморрагическим синдромом и умеренной тромбоцитопенией, имеющей семейный характер. Больной были проведены все доступные рутинные и альтернативные методы исследования тромбоцитарных нарушений. Решающим методом в диагностике заболевания оказалось полногеномное секвенирование, которое в сопоставлении с морфологическими и функциональными исследованиями является перспективным инструментом для дифференциальной диагностики гетерогенных тромбоцитарных нарушений.

Introduction

Introduction. Thrombocytopenia can be primary or secondary and warrants differential diagnosis of hereditary functional platelet defects.

Aim

Aim: to present the difficulties of verifying the diagnosis in disorders of the platelet component of hemostasis.

Main findings

Main findings. A clinical case of a 28-year old female patient is presented. The patient presented with a mild mucocutaneous hemorrhagic syndrome and moderate thrombocytopenia of a familial nature. All available routine and alternative methods for investigating platelet disorders were performed. Whole genome sequencing proved to be a crucial diagnostic method. This genetic analysis, in comparison with morphological and functional studies, is a promising tool for the differential diagnosis of heterogeneous platelet disorders.

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