Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children11810.24287/1726-1708-2015-14-4-17-24CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯDiagnosis of Glanzmann’s thrombasthenia by assessment of plasma and platelet hemostatic parametersДиагностика тромбастении Гланцмана с помощью исследования показателей плазменного и тромбоцитарного звеньев гемостазаKumskovaM. A.КумсковаМария Алексеевна
Russian Federation
m.kumskova@gmail.comDeminaI. A.ДёминаИрина Андреевна
Russian Federation
idemina@mail.ruPodoplelovaN. A.ПодоплеловаНадежда Александровна
Russian Federation
podoplelovan@yandex.ruBalandinaA. N.БаландинаАнна Николаевна
Russian Federation
a_balandina@inbox.ruSereginaE. A.СерёгинаЕлена Александровна
Russian Federation
elsereg@inbox.ruBondarE. V.БондарЕлена Владимировна
Russian Federation
terekhova_elena_@mail.ruPoletaevA. V.ПолетаевАлександр Владимирович
Russian Federation
poletaev_alexandr@mail.ruKonyashinaN. I.КоняшинаНадежда Ивановна
Russian Federation
konyashinan@mail.ruPanteleevM. A.ПантелеевМихаил Александрович
Russian Federation
mapanteleev@yandex.ruFederal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry RogachevФедеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева Минздрава РоссииCenter of Theoretical Problems of Physico-Chemical PharmacologyЦентр теоретических проблем физико-химической фармакологии РАНMoscow State University named after M.V. LomonosovМосковский государственный университет им. М.В. Ломоносова19122015144172419092018Copyright ©; 2015, «D. Rogachev NMRCPHOI»Copyright ©; 2015, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2015«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/118

Glanzmann's thrombasthenia (GT) is a hereditary disorder referred to the group of thrombocytopathies. It develops as a result of abnormality in the platelet structural protein, leading to deficiency or dysfunction of membrane protein integrin aIIbß3. Clinically the disease is characterized by spontaneous and posttraumatic bleedings. A typical pattern of platelet aggregation in GT is the absence of aggregation with all agonists and normal response in the presence of ristocetin. A clinical case of GT is described: a boy aged 3 years 10 months with a characteristic clinical manifestation of the hemorrhagic syndrome. Stages in the disease diagnosis and results of laboratory assays of the hemostatic system are described in detail. In addition to evaluation of the platelet aggregation activity, the functional activity of these cells was assessed by flow cytometry, which showed reduction of integrin aIIbß3 - quantitative (76.4% lower expression of CD61 in assessment of non-activated platelets and 88% lower in assessment of activated platelets) and qualitative (34% lower expression of PAC1 in non-activated platelets and 79.3% lower in activated platelets) in comparison with healthy donors.

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