Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying these diseases. Materials and Methods: The Russian PID registry was set up in 2017, by the National Association of Experts in PID (NAEPID). It is a secure, internet-based database that includes detailed clinical, laboratory, and therapeutic data on PID patients of all ages. Results: The registry contained information on 2,728 patients (60% males, 40% females), from all Federal Districts of the Russian Federation. 1,851/2,728 (68%) were alive, 1,426/1,851 (77%) were children and 425/1,851 (23%) were adults. PID was diagnosed before the age of 18 in 2,192 patients (88%). Antibody defects (699; 26%) and syndromic PID (591; 22%) were the most common groups of PID. The minimum overall PID prevalence in the Russian population was 1.3:100,000 people; the estimated PID birth rate is 5.7 per 100,000 live births. The number of newly diagnosed patients per year increased dramatically, reaching the maximum of 331 patients in 2018. The overall mortality rate was 9.8%. Genetic testing has been performed in 1,740 patients and genetic defects were identified in 1,344 of them (77.2%). The median diagnostic delay was 2 years; this varied from 4 months to 11 years, depending on the PID category. The shortest time to diagnosis was noted in the combined PIDs-in WAS, DGS, and CGD. The longest delay was observed in AT, NBS, and in the most prevalent adult PID: HAE and CVID. Of the patients, 1,622 had symptomatic treatment information: 843 (52%) received IG treatment, mainly IVIG (96%), and 414 (25%) patients were treated with biological drugs. HSCT has been performed in 342/2,728 (16%) patients, of whom 67% are currently alive, 17% deceased, and 16% lost to follow-up. Three patients underwent gene therapy for WAS; all are currently alive. Conclusions: Here, we describe our first analysis of the epidemiological features of PID in Russia, allowing us to highlight the main challenges around PID diagnosis and treatment.
The objective of the present work was to estimate the prevalence and risk factors of the development of allergic rhinitis among the children at the age from 3 to 6 years. The cross-sectional study was carried out in five cities of the Altai region during the period from 2015 to 2016. The prevalence of allergic rhinitis was evaluated with the use of the Russian language version of the ISAAC questionnaire filled up by the parents of the children. A child whose parents answered in the affirmative to the question 'Did your child have the runny nose, nasal congestion, and/or sneezing in the absence of cold symptoms and acute viral infection during the last 12 months?' were considered to be suffering from active allergic rhinitis (AAR). The risk factors for the development of this condition were identified with the use of an additional questionnaire. A total of 3205 filled questionnaires were available for the analysis. Based on the data obtained, the prevalence of active allergic rhinitis among the study population was estimated at 18.0% (n=577). 243 (42.1%) of these children presented with the symptoms of conjunctivitis. Therefore, the prevalence of active allergic rhinoconjunctivitis (ARC appears to be 7.5% (n=243). In fact, the medically verified diagnosis of allergic rhinitis was established only in 6.4% (n=204) children of the 577 ones having AAR. The family history of allergic rhinitis was shown to increase the risk of development of AAR by 2.6 times (OR=2.63 , 95%; CI=2.16-3.19; p<0.01) and that of ARC by 2.8 times (OR=2.85, 95%; CI=2.16-3.75; p<0.01). Masculine gender was found to increase the risk of development of both AAR an ARC by 1.3 times (OR=1.35, 95%; CI=1.01-1.37; p<0.05) and (OR=1.35, 95%; CI=1.03-1.76; p<0.05) respectively. The actual prevalence of active allergic rhinitis was significantly higher than the frequency of the medically verified diagnoses of this condition. It is concluded that the family history of allergic diseases and the masculine gender considerably increase the risk of development of both AAR and AFC.
Bronchial asthma (BA) and allergic diseases such as allergic rhinitis (AR) and atopic dermatitis (AtD) are the most common chronic diseases, the prevalence of which is growing among the child population with the urbanization and industrialization of society. These diseases place a heavy burden on patients, their families and society as a whole, which is associated with a chronic course, frequent exacerbations and the need for long-term therapy of these diseases. Traditionally, data on the prevalence of BA and allergic diseases among children are based on the results of the program «International Study of Asthma and Allergies in Childhood», focused on school-age children 6–7 and 13–14 years. Standardized international epidemiological studies of the prevalence of BA and allergic diseases in preschool children have not been conducted and to date, few foreign data have been published demonstrating a high prevalence among children of this age. Studies on the epidemiology of asthma and allergic diseases among preschoolers in Russia are few. The purpose of this article is to systematize the currently available information on the prevalence of BA and allergic diseases among children. Data sources: A comprehensive literature search was conducted using the PubMed database.
Background. It is difficult to diagnose bronchial asthma (BA) in children under the age of 6 due to the limited ability to study respiratory function. Therefore, it is relevant to search for such diagnostic markers of BA that do not require the active participation of a child.Objective. Our aim was to assess the diagnostic value of serum periostin levels in comparison with surrogate markers of eosinophilic inflammation (total IgE and blood eosinophils) for the diagnosis of BA in preschool children.Methods. A cross-sectional study included children 3–6 years of age with BA and healthy peers. The levels of serum periostin (ELISA), total IgE (chemiluminescent method), blood eosinophils (counted on a hematological analyzer) were determined. To study the diagnostic value of peripheral blood parameters ROC-analysis was used.Results. Children with BA (n = 56) compared with the healthy group (n = 29) showed higher levels of serum periostin (median and quartile) — 5.7 (3.4, 8.0) and 2.7 (1, 7; 3.6) ng/ml (p < 0.001), total IgE — 180 (122; 622) and 55 (45; 87) IU/ml (p < 0.001), blood eosinophils — 6.1% (3.8; 8.0) and 3.6% (2.7; 4.1) (p < 0.001). The area under the ROC curve (AUC) for serum periostin was 0.81 (95% CI 0.73–0.89), for total IgE — 0.86 (95% CI 0.77–0.92), for blood eosinophils — 0.77 (95% CI 0.67–0.86). Independent predictors of serum periostin were total IgE and the number of exacerbations of BA over the past 12 months > 2 (R2 = 0.527).Conclusion. The level of serum periostin in preschool children with BA is higher than in their healthy peers. The diagnostic value of serum periostin in BA is in the range from moderate to good and is comparable to that for the levels of blood eosinophils and total IgE.
1 -Федеральное государственное бюджетное образовательное учреждение высшего образования «Алтайский государственный медицинский университет» Министерства здравоохранения Российской Федерации: 656038, Барнаул, пр. Ленина, 40; 2 -Федеральное государственное бюджетное образовательное учреждение высшего образования «Сибирский государственный медицинский университет» Министерства здравоохранения Российской Федерации: 634050, Томск, Московский тракт, 2 Информация об авторах Шахова Наталья Викторовна -к. м. н., доцент кафедры пропедевтики детских болезней Федерального государственного бюджетного образова тельного учреждения высшего образования «Алтайский государственный медицинский университет» Министерства здравоохранения Российской Фе дерации; тел.: (960) 959 81 98; e mail: natalia.shakhova@mail.ru Камалтынова Елена Михайловна -д. м. н., доцент кафедры факультетской педиатрии с курсом детских болезней лечебного факультета Федераль ного государственного бюджетного образовательного учреждения высшего образования «Сибирский государственный медицинский университет» Министерства здравоохранения Российской Федерации; тел.: (903) 952 91 02; e mail: eleant21@yandex.ru Лобанов Юрий Федорович -д. м. н., профессор, заведующий кафедрой пропедевтики детских болезней Федерального государственного бюджет ного образовательного учреждения высшего образования «Алтайский государственный медицинский университет» Министерства здравоохранения Российской Федерации; тел.: (960) 946 71 43; e mail: luf@list.ru Ардатова Татьяна Сергеевна -ассистент кафедры пропедевтики детских болезней Федерального государственного бюджетного образовательного учреждения высшего образования «Алтайский государственный медицинский университет» Министерства здравоохранения Российской Федерации; тел.: (913) 234 04 43; e mail: ardatova_agmu@mail.ru Николаева Кристина Сергеевна -студентка педиатрический факультета Федерального государственного бюджетного образовательного учрежде ния высшего образования «Алтайский государственный медицинский университет» Министерства здравоохранения Российской Федерации; РезюмеЦелью исследования явилась оценка распространенности текущих астмоподобных симптомов (тАПС) и аллергического ринита (тАР) у детей 3-6 лет и установление факторов риска их развития. Материалы и методы. В 5 городах Алтайского края проводилось кросс сек ционное исследование (2015)(2016). Оценка распространенности тАПС и тАР проводилась с помощью русифицированной версии опросника Международного исследования астмы и аллергии у детей (International Study of Asthma and Allergiesin Childhood -ISAAC). Фак торы риска выявлялись с помощью дополнительного опросника, заполняемого родителями. Результаты. Заполнено 3 205 опросников, по результатам анализа которых установлено, что распространенность тАПС составила 11,1 %, тАР -18,0 %. Из 3 205 детей аллергичес кий ринит (АР) верифицирован врачами у 6,4 %, бронхиальная астма -лишь у 0,9 %. При отягощенном семейном анамнезе по аллерги ческим заболеваниям (АЗ) риск развития тАПС в дошкольном возрасте повышается в 2 раза (ОШ -2,11; 9...
Информация о распространенности аллергической и неаллергической бронхиальной астмы среди детей дошкольного возраста ограничена в связи с недостаточным количеством исследований. В то же время определение фенотипа заболевания является ключевым для выбора оптимальной терапии и определения прогноза. Цель исследования: установить распространенность аллергической и неаллергической бронхиальной астмы у детей 3-6 лет, проживающих в городских условиях Алтайского края, и изучить спектр сенсибилизации. Проведено одномоментное популяционное исследование, состоявшее из двух этапов. На этапе скрининга в исследование включены 3205 детей в возрасте 3-6 лет, посещающих дошкольные образовательные учреждения. Симптомы бронхиальной астмы определяли, используя опросник ISAAC. На клиническом этапе диагноз заболевания верифицировали аллергологи на основании диагностических критериев GINA. Аллергический фенотип бронхиальной астмы устанавливали при положительном прик-тесте и/или при уровне специфических IgE в крови >0,35 кЕ/л как минимум к одному аллергену. Результаты. Распространенность бронхиальной астмы среди городских детей в возрасте 3-6 лет составила 5,7%. Распространенность аллергической бронхиальной астмы преобладает над неаллергической-4 и 1,7% соответственно. Состояние большинства детей сенсибилизировано к 2 аллергенам и более, наиболее часто отмечается сенсибилизация к клещу домашней пыли Dermatophagoides pteronyssinus (42,9%), пыльце березы (34,3%) и эпителию кошки (27,5%). Заключение. Установлена высокая (5,7%) распространенность бронхиальной астмы среди детей 3-6 лет, проживающих в городских условиях Алтайского края с преобладанием аллергического фенотипа.
Background.It is necessary to study the prevalence and risk factors of allergic rhinitis (AR) among pre-school children in order to develop a disease prevention strategy.Objective.Our aim was to study the prevalence, clinical and allergological features, and risk factors for AR in pre-school children living in urban settings of the Altai Region.Methods.At the screening stage, the study enrolled children aged 3–6 years attending pre-school educational institutions in 5 cities of the Altai Region. AR symptoms were determined using the ISAAC questionnaire. The AR was diagnosed if ≥ 2 symptoms (rhinorrhea, nasal breathing difficulty, itching in the nasal cavity, repetitive sneezing) lasted ≥ 1 h with a positive prick test and/or a blood level of specific IgE > 0.35 kU/L to at least one allergen (total 11).Results.The prevalence of AR in urban children aged 3–6 years (n = 3,205) was 10.6%; 48% of them were previously diagnosed with AR. 85% of children had a persistent course of the disease; 69% had mild AR. Most often, there was established sensitization to house dust mites (61.6%), birch pollen (40.9%), and cat fur (19.4%). The risk factors for AR were family history of allergies [odds ratio (OR) 4.2; 95% confidence interval (CI) 3.5–5.9], masculine (OR 2.8, 95% CI 1.9–4.0), smoking parents (OR 1.8, 95% CI 1.2–2.9), nonadherence to a regimen/dosage of vitamin D3 intake in infancy (OR 1.8, 95% CI 1.2–2.8), presence of asthma-like symptoms (OR 10.2, 95% CI 7.2–14.5), and manifestations of atopic dermatitis (OR 6.0, 95% CI 4.2–8.5).Conclusion.AR occurs in every tenth pre-school child (mainly of mild severity and persistent course), every second disease among them was diagnosed for the first time. Sensitization occurs to typical for childhood allergens. The risk factors for AR are family history of allergies, masculine, passive smoking, ignoring the recommendations of taking vitamin D3 in infancy, the presence of atopic dermatitis, and asthma-like symptoms.
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