PRIMARY IMMUNODEFICIENCIES: REGIONAL, NATIONAL AND GLOBAL CHALLENGES
DOI:
https://doi.org/10.11603/2415-8798.2018.3.9270Keywords:
primary immunodeficiency, diagnostics, challenges, awarenessAbstract
Primary immunodeficiency is a group of disorders caused by genetic defects in immune function. In recent years, there has been a positive trend in the detection of primary immunodeficiency in Ukraine and in Ternopil region, but early diagnosis of diseases remains an important problem.
The aim of the study – to analyze the problems of diagnosis and treatment of primary immunodeficiency in Ukraine and in the region, and to determine the directions for their improvement. In recent years, significant progress has been made in the diagnosis of primary immunodeficiency in Eastern Europe and Ukraine. The number of diseases in Ukraine over the past 10 years has tripled, but still a significant number of cases remain unidentified. From 2012 in Ukraine there is a register of patients with primary immunodeficiency. In the region there is insufficient detection of antibody defects and combined immunodeficiency in comparison with Ukraine and Europe, are not used all possibilities for diagnosis immunodeficiency with syndromic features, in particular Nijmegen breakage syndrome and Di George syndrome. The analysis showed insufficient knowledge of medical students, interns of different specialties and physicians (the first contact physicians: pediatricians, general practitioners/family physicians, and pediatric sub-specialists) in the diagnosis and management of primary immunodeficiency. Multidisciplinary cooperation of specialists from different fields (the first contact physicians, immunologists, allergologists, pulmonologists, rheumatologists, surgeons, neonatologists, otolaryngologists, gastroenterologists, etc.) is an important aspect in the diagnosis and treatment of patients with primary immunodeficiency. The expansion of the spectrum of genetic testing of primary immunodeficiency, providing high quality immunoglobulins for intravenous and subcutaneous administration of patients of all age groups, the availability of allogeneic transplantation of hematopoietic stem cells from the related and unrelated donor are today the main challenges of the development of pediatric immunology in Ukraine and in the region. Implementation of the model of combining physician education and public awareness with the infrastructure to diagnose primary immunodeficiency diseases in children will allow to improve early diagnosis of diseases and quality of life of children.
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