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 revealed identity of problems in different regions of the country allows to consider a common strategy to overcome them, which, obviously, should primarily involve education of medical personnel, restructuring of hospital beds to increase day care beds, increasing the clinical expert work in hospitals.

Increase of effectiveness of intensive care consultative providing of children is an actual problem.Purpose: the analysis of effectiveness of the optimized system of intensive care consultative providing of the emergency medical care to children in the Rostov region.Methods: the retrospective cohort study, including patients of the of intensive care consultative center (ICCC) is conducted. Databases and log-books of patients of ICCC were analyzed. Research period: 2012-I half of 2016. The studied groups: the 1st – 2012-2014 (before optimization, n = 1124), the 2nd – 2015-2016 (after optimization, n = 1432). Effectiveness was estimated on dynamics of a lethality in intensive care unit (ICU), it is padding – dynamics of number of distant consultations, departures and evacuations.Results: Ninety-seven percent of patients of ICCC are evacuated in the ICU. The lethality decreased from 5,1% – in 2012 to 3% in the I half-year 2016. Increased: the number of distant (telephone) consultations for 119,6% from 572 to 1363 in 2015 in comparison with 2014; consultations near the patients for 37,6% with 237 to 326; a share of departures with the subsequent evacuation from 54,8% (338 of 617) in group 1 to 60,8% (270 of 444; p = 0,050) in group 2; indexes “the number of departures evacuations to departures consultations” to 1,8 in the I half-year 2016 in comparison with 1,2 in 2012 and “number of primary consultations to repeated consultations” to 3,1 in comparison with 2,2. Significant strong negative correlation between an index of a lethality, the relation of number of departures evacuations to departures to consultations (р = 0,028) and the relation of primary distant consultations to repeated is revealed (р = 0,026).Conclusion: optimization of reanimation providing advice allowed to lower a lethality in ICU at increase in a flow of the evacuated patients.

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The article analyzes the possibilities of auditing the quality of medical care to improve the efficiency of medical organizations. The audit of the medical organization is a closed cycle to improve the quality of medical care, which should include assessing the actual assistance provided in relation toОднако в настоящее время в педиатрической систе-ме обнаруживается ряд проблем, связанных с недоста-точным знанием медицинским персоналом современных способов диагностики и лечения, актуальных классифи-каций, клинических рекомендаций, а также с плохим материальным обеспечением, в том числе выявляются дефекты управления и организации [2, 3]. Эти факторы существенно снижают качество оказываемой медицин-ской помощи, особенно в педиатрических стационарах.