Распространенность маркеров хронической болезни почек у пациентов с артериальной гипертонией: результаты эпидемиологического исследования ХРОНОГРАФ Ключевые слова: артериальная гипертония, сахарный диабет, хроническая болезнь почек, скорость клубочковой фильтрации, альбуминурия.

Cardiomyopathies (CMP) are considered diseases with unknown etiology. CMP are usually diagnosed on the late stages of the disease. It is an important task to seek methods which allow diagnosing CMP on the early stages of development. Aim -to estimate the type of polymorphic variants of angiotensin converting enzyme (ACE), glutathione S-transferase (GSTM1) frequency distribution among the CMP sick and healthy individuals living in the Republic of Bashkortostan, and to substantiate their role in the CMP pathogenesis. Material and Methods -There were 67 CMP sick put under observation. Out of them40 werediagnosed ischemic cardiomyopathy (ICM), and 27 were diagnosed dilated cardiomyopathy (DCM). The control group was made up of 110 practically healthy people. The results.In the ICM sick group the DD genotype (χ 2 =4.8; p=0.029) was definitely found more frequently, also in case of DCM the increase of DD genotype (χ 2 =4.0, p=0.044) frequency was ascertained. Conclusion -The genetic analysis of polymorphic locus of I/D ACE gene in the ICM and DCM sick showed decrease in frequency of occurrence II, ID genotypes, I allele and increase of D genotype and D allele which points out the increased risk of these cardiovascular diseases.

Background. Due to the significant increase in life expectancy and the quality of life in patients with chronic myeloid leukemia (CML) as well as the growing need for expensive tyrosine kinase inhibitors (TKI), the analysis of cost-effectiveness and lifelong monitoring of patients is especially important. Aim. We present the results of a multicenter observational study “The Russian Registry of Chronic Myeloid Leukemia in routine clinical practice (2011-2016)”. Materials & Methods. The study included Russian patients with CML, confirmed by the detection of a Ph-chromosome or a BCR-ABL transcript. The statistical analysis (July 1, 2016) included 7609 patients from 80 regions of the Russian Federation (covering 95 % of the population). The annual increase in the number of patients with newly diagnosed CML was 600-650 patients. At the time of the statistical analysis, 6995 (92 %) patients remained under observation, 473 (6 %) died and 141 (2 %) were withdrawn. The registry included 44 % of men and 56 % of women, the median age was 49 years (range 2-94 years). The peak incidence (46.3 %) occurred at the age of 40-60 years. The median disease duration by the time of the analysis was 6 years (range 0.1-30 years). Results. The disease was diagnosed in the chronic phase (CP), acceleration phase, and blast crisis in 6560 (93.8 %), 380 (5.5 %) and 47 (0.7 %) patients, respectively. The proportion of risk groups according to Sokal for low, intermediate and high risk in CP was 49 %, 30 %, and 21 %, respectively. TKI were administered to 6473 (92.5 %) patients. Imatinib and the second generation TKI (TKI2) were administered to 5570 (86 %) and 903 (14 %) patients, respectively. The total of 30.4 % of patients received the increased imatinib dose of 600-800 mg. In the TKI2 group, 558 (61.7 %) patients received nilotinib and 345 (38.2 %) patients received dasatinib. The proportion of patients with completed molecular genetic studies (MGS) in 2014, 2015 and the first 6 months of 2016 amounted to 61 %, 58 % and 23 %, respectively. The proportion of patients with cytogenetic studies (CS) for the same period was 28 %, 26 % and 7 %, respectively. No CS or MGS data were presented for 34 %, 35 % and 63 % of patients during this period. Optimal molecular response and major molecular response (MMR) for TKI therapy were observed in 23 % and 58 % of patients treated < 12 months and > 12 months, respectively. When nilotinib was used in the second line, MMR was obtained in 42 % of patients, and a deep molecular response was obtained in 25 % of patients (BCR-ABL < 0.01 %). Conclusion. The high efficacy of TKI therapy was observed in the majority of patients with the possibility of achieving a minimal residual disease. The problems concerning untimely monitoring and suboptimal administration of second line treatment were identified. In general, the CML patient registry allowed the data integration of data and information management of population with CML in Russia.

РезюмеВ статье описывается клинический случай впервые выявленной истинной полицитемии у 67-летнего мужчины, поступившего в стационар в гематологическое отделение Республиканской клинической больницы им. Г.Г. Куватова г. Уфы по поводу рестеноза поверхностной бе-дренной артерии. При поступлении основными жалобами пациента были боль в левой ноге, одышка при физической нагрузке, головная боль, нестабильное артериальное давление, онемение рук, быстрая утомляемость, общая слабость. Кроме того, пациента беспокоил выра-женный кожный зуд. При поступлении в объективном статусе больного обращали на себя внимание гиперемия лица и шеи, инъекция склер, акроцианоз, синюшный оттенок слизистой оболочки ротовой полости, ампутационная культя нижней левой трети бедра, некротизирован-ный участок на коже дистального отдела среднего пальца правой ноги. После получения данных лабораторно-клинических исследований, а также на основании жалоб больного, анамнеза заболевания и клинической картины был установлен окончательный клинический диагноз: истинная полицитемия II B стадия.На фоне проводимой терапии пациент отмечал улучшение общего состояния, стабилизацию артериального давления, уменьшение болей в правой ноге, уменьшение одышки, зуда кожи, улучшение чувствительности в руках. По данным лабораторных исследований также была выявлена положительная динамика.Приведенное клиническое наблюдение подчеркивает необходимость своевременной диагностики и постоянного контроля лечения истин-ной полицитемии с помощью клинических и лабораторно-инструментальных методов исследования, что является условием правильного прогнозирования течения заболевания и достижения максимальной эффективности проводимой терапии.Ключевые слова: истинная полицитемия, JAK2V617F, гиперемия лица и шеи, акроцианоз, тромбозы.

The article presents information on the methods of diagnosis and targeted therapy of chronic myeloid leukemia (CML). A clinical case of CML with the development of resistance to therapy with 1st generation tyrosine kinase inhibitors (ITK), the appointment of 2nd generation ITK (dasatinib) with regard to comorbidity, the development of adverse events in the form of fibrosing alveolitis and severe pleurisy, translation of nilotitis in the form of fibrosis of the alveolitis and severe pleurisy is considered, but the lack of effect of treatment. The study of the mutational status revealed a BCR-ABL Y253H mutation, which made it possible to individualize the patient’s therapy, obtain a large molecular response, and overcome undesirable phenomena. The development of resistance or the loss of response to the treatment of ITK in CML with comorbidity requires the timely identification of mutations in the kinase domain of BCR-ABL and contributes to the selection of early personalized therapy for a particular patient.