Abstract
Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. At the moment, this disease is described in 10 person in the world. We present clinical case report of this pathology of a 9-year-old child. We also offer a review of the available literature about pathogenetic features, clinical manifestations and prevalence of this rare disease. The patient’s parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications.
Highlights
Контактная информация: Копосова Анастасия Олеговна, врач-гематолог консультативного отделения ФГБУ «НМИЦ ДГОИ им
Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene
We offer a review of the available literature about pathogenetic features, clinical manifestations and prevalence of this rare disease
Summary
Hemotologist of Outpatient Consultative Unit, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation Address: 1 Samory Mashela St., Moscow 117997, Russia E-mail: anastasia.koposova@. Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. Что количество экхимозов у детей с нарушениями свертываемости крови может увеличиваться и они могут появляться даже у младенцев [3,4,5], зачастую отличить здорового ребенка с наличием вышеперечисленных симптомов от пациента с проявлениями кровоточивости как следствием нарушения системы гемостаза представляет собой большую проблему для педиатра и гематолога. Неудивительно, что большинство видов тромбоцитопатий, в том числе наиболее тяжелые нарушения функции тромбоцитов, диагностируются при помощи генетических методов. Множественные петехиальные и пурпурозные элементы, экхимозы преимущественно на коже нижних конечностей
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