NEONATAL SCREENING IN UKRAINE: THE NEW CHALLENGES
| Autor: | L.A. Volianska, L.M. Shulhay, T. V. Hariyan, I. B. Chornomydz, O. R. Boyarchuk, N. M. Yarema, M. I. Kinash |
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| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | Neonatology, surgery and perinatal medicine. 10:15-19 |
| ISSN: | 2413-4260 2226-1230 |
| DOI: | 10.24061/2413-4260.x.3.37.2020.2 |
| Popis: | Introduction. The priority of modern pediatrics and neonatology is to improve the organizational forms and methods of providing medical care to children, reducing morbidity, mortality and disability prevention. Severe Combined Immunodeficiency (SCID) is a group of primary immunodeficiency conditions with particularly severe dysfunction or absence of T and B cells, and sometimes NK lymphocytes. Late diagnosis of primary immunodeficiency, namely SCID, leads to the development of severe infectious complications, significantly complicates the further treatment and survival of patients, often leading to death from infancy. Today there are results of SCID treatment, with early diagnosis the effectiveness of therapy and survival of children is more than 90% in the world. A number of countries around the world conduct neonatal screening at the state level for early diagnosis of SCID. Modern neonatal screening in Ukraine is provided for 4 nosologies, while in other countries it covers from 8 to 60 genetic pathologies. The aim of our study is the early detection and diagnosis of severe primary immunodeficiency by neonatal screening, prevention of severe infections and complications in this group of patients, timely radical treatment, improving survival and quality of life of children with severe primary immunodeficiency. Materials and methods. For the first time in Ukraine, it is planned to conduct a pilot study of screening of newborns to detect severe primary immunodeficiencies, which will be based on the determination of T- and B-lymphopenia by TRECs and KRECs. The prevalence of T- and B-lymphopenias among 19 newborns, their importance in the diagnosis of severe combined immunodeficiencies and severe antibody disorders will be determined. Based on the results of the study, a protocol for the detection of primary immunodeficiencies by TRECs and KRECs and further tactics for infection prevention, treatment and surveillance of such children will be developed. For the first time, the clinical and economic feasibility of introducing neonatal screening for severe immunodeficiencies in Ukraine will be substantiated. Expected results. After studying the prevalence of T- and B-lymphopenia in infants, their importance in the diagnosis of SCID and severe antibody disorders will be formulated. Conclusions. Early diagnosis of primary immunodeficiency is extremely important to improve the patient's quality of life, as delayed diagnosis leads to a lack of adequate therapy and, consequently, to further serious infections that interfere with daily life, increasing the risk of various non-infectious complications. It is known that these disorders negatively affect the health of the patient, the quality of life of his family and people caring for him. In addition, existing research in the world proves that early diagnosis and bone marrow transplantation is an effective way to reduce the incidence and mortality of patients with SCID and lymphopenia |
| Databáze: | OpenAIRE |
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