Clinical case of hereditary thrombocytopenia in a 6 year old child with primary combined immunodeficiency condition

Background. One of the leading causes of childhood disability and mortality at the present stage is hereditary and congenital pathology. It is the problem of early diagnosis of these diseases in children that still has great scientific and practical significance. Approaches to the diagnosis of hereditary and congenital diseases are constantly being improved, and the areas of medical practice of their application are expanding. This is possible thanks to the widespread introduction of molecular genetics – a large and diverse group of molecular genetic methods designed to identify polymorphisms in gene structure. The significance of this diagnostic spectrum for medicine in general, including pediatric practice, is obvious: early detection of the disease and initiation of therapy based on the principles of evidence-based medicine, the use of drugs that are considered safe and effective based on molecular diagnostics; monitoring treatment and determining prognosis.

Results. The article presents a clinical case of hereditary thrombocytopenia in a 6-year-old child with a primary immunodeficiency state. A child from the fifth pathological pregnancy, third surgical birth. The patient has had thrombocytopenia since birth. From two months of life to one year, frequent acute respiratory infections are observed (up to two times a month), from one year of age, recurrent nosebleeds are observed once or twice a month. For the first time, the diagnosis of hereditary thrombocytopenia was suspected at the Children's Regional Clinical Hospital in Belgorod. The patient was sent for further examination, in order to verify the diagnosis, at the end of 2021 to the Dmitry Rogachev National Medical Research Center for Pediatric Hematology, Oncology and Immunology. Based on the results of a molecular genetic examination, mutations in the ETV6 genes (participated in hematopoiesis by affecting cell proliferation and differentiation) and PTEN (tumor growth suppressor) in the heterozygous state were identified. He was repeatedly hospitalized in the children's regional clinical hospital at his place of residence with the main clinical diagnosis: Primary combined immunodeficiency. Hereditary thrombocytopenia associated with a mutation of the ETV6 gene. To this day, the manifestations of hemorrhagic syndrome and thrombocytopenia in the child persist. The described case is of interest due to the rarity of this pathology, the difficulties associated with its diagnosis, and emphasizes the need for interaction between a team of specialists to achieve the most favorable prognosis for patients suffering from hereditary diseases.

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