3 research outputs found
Characteristics of mukoviscisidosis in the southern regions of Russia
Introduction. Cystic fibrosis (CF) is a hereditary disease with genetic heterogeneity and clinical polymorphism. Expanding the range of knowledge about the characteristics of the course of the disease in different regions is important to achieve the goal of improving the quality and life expectancy.Purpose. Comparative analysis of the features of the course of CF in the subjects of the Southern Federal District, Stavropol Territory.Methods. Data from the National Register of Patients of the RF MV 2016 were used. Results: there are clinical and genetic features between the regions of the Southern Federal District and the Stavropol Territory of the North Caucasus Federal District and in general with the Russian Federation. Analysis of the data showed differences in indicators: the proportion of patients aged ≥ 18 is the lowest in the Republic of Crimea (14.9%), in the Rostov region the lowest average age of patients (9.0 ± 6.3), and the lowest age of diagnosis 2.2 ± 3.1 years. Late terms of diagnosis were revealed in the Stavropol Territory (4.0 ± 8.0 years), but here there is one of the highest average age of CF patients (14.1 ± 11.5), the proportion of adult patients (23.3%) and the lowest allelic frequency of F508del, which is determined by the high number of patients with a “soft” genotype. There is a high proportion of patients with an undetermined genotype. A low proportion of two identified genetic variants of the CFTR gene is registered in patients of the Republic of Crimea. A low frequency of Burkholderia cepacia complex and Achromobacter spp was revealed, and a high infection with non-tuberculous mycobacteria was revealed in the Rostov region. FEV1 in children and adults was lower in Rostov Region and Stavropol Territory. In all regions, there is a discrepancy between the seeding of flora and azithromycin therapy and the severity of the genotype with the use of pancreatic enzymes.Conclusions. Analysis of the data of the registry, which allows substantiating the need to study the regional characteristics of the course of CF in order to differentiate the planning of measures to improve the quality of medical care for patients with CF
Генетическая характеристика больных муковисцидозом в Российской Федерации по данным Национального регистра (2014)
The aim of this study was to investigate genetic features of patients with cystic fibrosis (CF) according to the National Register findings in Russia. Methods. The study involved 2,131 CF patients living in 74 regions of Russia who were included in the National Register of CF patients in 2014. Results. Genetic testing was performed in 89% of patients. The total mutant allele frequency was 81.2%. One hundred and twenty two mutations were found which comprised 173 genotypes; «mild» mutations took 23%. The most common mutant allele frequencies in the descending order were as follows: F508del, 51.53%; СFTRdele2,3, 5.93%; E92K, 2.62%; 3849+10kbC>T, 2.14%; 2184insA, 1.80%; W1282X, 1.80%; 2143delT, 1.69 %; N1303K, 1.43%; G542X, 1.16%; 1677delTA, 0.98%; L138ins, 0.95%; R334W, 0.85%; 394delTT, 0.85%; 3821delT, 0.42%; 2789+5G>A, 0.37%; S466X, 0.37%; S1196X, 0.37%; 3272-16T>A, 0.34%; W1282R, 0.29%; 3944delGT, 0.21%. Typical features of CFTR mutation distribution in Russian CF patients were lower frequency of mutations which are predominant worldwide, such as F508del, G542X, N1303K, and scarce G551D, 1717-1G>A, 2183AA>G mutations. On contrary, СFTRdele2,3, E92K, 2184insA, 2143delT, 1677delTA, L138ins mutations which are quite rare in Western Europe were encountered more often in Russia. «Mild» mutations were more common in Russian population of CF patients compared to European countries and have being increasing last years. Conclusion. Genetic features of Russian CF patients could be provided by Slavic, Turkic and Finno-Ugric genetic influence on Russian population.Генетическому разнообразию больных муковисцидозом (МВ) в России посвящены единичные работы на ограниченной выборке больных. Цель. Выявление особенностей генетического профиля больных МВ в России по данным Национального регистра (2014). Материалы и методы. Данные пациентов с МВ (n = 2 131) из 74 регионов России, включенные в Национальный регистр больных МВ (2014). Результаты. Генетическое обследование проведено у 89,0 % больных, суммарная аллельная частота выявленных мутаций составила 81,2 %. Выявлено 122 мутации, которые сформировали 173 различных генотипа, среди которых доля «мягких» генотипов составила 23,0 %. Аллельная частота самых распространенных мутаций представлена в порядке убывания: F508del – 51,53 %, СFTRdele2,3 – 5,93 %, E92K – 2,62 %, 3849+10kbC>T – 2,14 %, 2184insA – 1,80 %, W1282X – 1,80 %, 2143delT – 1,69 %, N1303K – 1,43 %, G542X – 1,16 %, 1677delTA – 0,98 %, L138ins – 0,95 %, R334W – 0,85 %, 394delTT – 0,85 %, 3821delT – 0,42 %, 2789+5G>A – 0,37 %, S466X – 0,37 %, S1196X – 0,37 %, 3272-16T>A – 0,34 %, W1282R – 0,29 %, 3944delGT – 0,21 %. Выявлено, что особенностями распределения мутаций. CFTRсреди российских больных МВ являются меньшая частота доминирующих в мире мутаций, таких как F508del, G542X, N1303K, единичная встречаемость мутаций G551D, 1717-1G>A, 2183AA>G и наоборот – более высокая частота мутаций, являющихся относительно редкими в западноевропейских странах: СFTRdele2,3, E92K, 2184insA, 2143delT, 1677delTA, L138ins. Другой особенностью является более высокая встречаемость «мягких» мутаций в России по сравнению со странами Европы. Выявлено, что доля «мягких» мутаций в популяции больных МВ на протяжении последних лет увеличивается. Заключение. При формировании населения России особенности генетического профиля российских больных МВ определяются славянскими, тюркскими и финно-угорскими влияниями
A clinical report of Burkitt’s lymphoma
Aim. A clinical analysis of Burkitt’s lymphoma (BL) in a 4 years-old female child.Materials and methods. A retrospective analysis was conducted for the history, disease’s course, laboratory and instrumental diagnosis and treatment in patient B. with BL, 4 years old.Results. A 4-yo patient was diagnosed with BL spread to bone marrow, CNS, lymph nodes, both kidneys and spleen. Leukocytosis in common blood profile. Elevated lactate dehydrogenase (LDH) and C-reactive protein (CRP) in biochemical blood profile. Neck lymphadenopathy, mediastinum in computed tomography (CT). Splenomegaly. Multifocal lesion of both kidneys. Retroperitoneal lymphadenopathy. Positive clinical dynamics (normalisation of body weight) is observed with background therapy, LDH 335 U/L in biochemical blood profile, reduced multifocal kidney lesion and spleen size in CT.Conclusion. A clinical case of Burkitt’s lymphoma is reported affecting the bone marrow, CNS, lymph nodes, both kidneys and spleen. Intensive polychemotherapy allowed stabilisation of the patient and containment of oncological processes