Experts of The Union of Pediatricians of Russia have developed current clinical guidelines for management of children with community-acquired pneumonia, which were approved by the Scientific and Practice Council of Ministry of Public Health of the Russian Federation in January 2022. Particular attention is paid to the etiological structure, modern classification, diagnostic tests and flagship approaches to antibacterial therapy of community-acquired pneumonia in children based on the principles of evidentiary medicine.

Background. Thrombocytopathies are topical issues of pediatrics. Platelet dysfunction clinically manifests as thrombotic and hemorrhagic events of various severity and location. Platelet function can be evaluated via aggregatometry. Specified parameters for aggregatometry can be used in pediatrics as a standard for evaluating platelet function in peripheral blood. There were no similar studies in children in Russian Federation.Objective. The aim of the study is — to justify the significance of reference ranges (RR) development for platelet aggregatometry in pediatrics.Methods. The study included 30 relatively healthy patients aged from 1 to 18 years. Laboratory tests included complete blood count via automatic hematological analyzer; platelet aggregation in whole blood was evaluated via impedance aggregometer; plasmic hemostasis component (Quick prothrombin), activated partial thromboplastin time (APTT), thrombin time (TT), and fibrinogen were evaluated on automatic coagulation analyzer; molecular genetic study of platelet genes polymorphisms was performed via real-time PCR. Several inducers were used to study platelet aggregation: thrombin receptor activating peptide (TRAP), adenosine diphosphate (ADP), arachidonic acid (ASPI). Instrumental methods included electrocardiography, ultrasound of abdomen, urinary system, and thyroid gland.Results. The study included 16 girls and 14 boys. The median age was 9.4, interquartile range (IQR) was 6.5; 14,1. RR for platelet aggregation indicators were determined for all aggregation inducers (thrombin, ADP, arachidonic acid) as a result of the study.Conclusion. The obtained data will allow to improve the diagnosis approach for platelet dysfunction regarding the established reference ranges. The results of further research may contribute in the development of the algorithm for controlling antiplatelet therapy in patients with contraindications or with genetically determined low sensitivity to thrombocyte aggregation inhibitors based on acetylsalicylic acid.

Experts of the Union of Pediatricians of Russia have developed modern guidelines on management of children with acute respiratory viral infection. The term “acute respiratory viral infection” (ARVI) combines following nosological forms: acute nasopharyngitis, acute pharyngitis, acute laryngitis, acute tracheitis, acute laryngopharyngitis, upper respiration tract infection (unspecified). The issues of epidemiology, diagnosis, treatment, and prevention have been considered in detail.

Весьма актуальной проблемой в педиатрии является проблема нарушений функционирования в системе гемостаза, особенно в ее противосвертывающей системе. Дефицит факторов системы фибринолиза и противосвертывающей системы повышает риск развития тромбозов. У детей на фоне хронической патологии, с синдромами заболеваний нервной, сердечно-сосудистой систем, а также у пациентов с наследственными генетическими заболеваниями при дефиците факторов противосвертывающей системы (врожденного или приобретенного генеза) отмечаются эпизоды тромботических событий. Тромбоз у детей с генетически обусловленными тромбофилиями чаще возникает при воздействии дополнительных факторов риска. В раннем неонатальном периоде дефицит антикоагулянтных факторов проявляется в виде фульминантной пурпуры с последующим развитием некрозов кожи. Генетический фактор в развитии тромбофилий приводит к недостатку или дефекту факторов свертывания крови, рецепторов тромбоцитов либо проявляется в виде наследственной предрасположенности. Проводимый в настоящее время скрининг системы гемостаза не обеспечивает должным образом выявление причин тромбоза. Развитие тромботических осложнений у детей является мультифакториальным патологическим состоянием и требует мультидисциплинарного подхода к диагностическим и лечебным мероприятиям. Проблема своевременной диагностики дефицита естественных антикоагулянтов носит социально значимый характер. В настоящее время регулярно пересматриваются международные консенсусы и национальные протоколы лечения и профилактики венозного тромбэмболизма. В представленном исследовании проводилась оценка системы естественных антикоагулянтов у детей с различной патологией. В исследование были включены 33 пациента с подтвержденными диагнозами (кардиоваскулярная патология, синдромы заболеваний нервной системы, недифференцированная дисплазия соединительной ткани, наследственный моногенный синдром). Полученные результаты свидетельствуют о высокой частоте встречаемости полиморфизмов в генах коагуляции (у трети детей с различными заболеваниями в исследовании), у части пациентов определено снижение активности протеинов С и S (от 12% до 36%), что подтверждает необходимость проведения представленной диагностики для прогноза состояния и оценки гемостаза у детей. A significant problem in pediatrics is the hemostasisdysfunction, especially its anticoagulant system. The deficiency of fibrinolysis factors and the anticoagulant system increases the risk of thrombosis. Children with chronic diseases, such as cardiovascular, nervous systems, in patients with hereditary genetic diseases with a deficiency of anticoagulant factors (congenital or acquired), may have episodes of thrombotic events. Thrombosis in children with genetically determined thrombophilia often occur in the context of risk factors. In the early neonatal period, the deficiency of anticoagulant factors manifests as the form of fulminant purpura, followed by the development of skin necrosis. The genetic factor plays one of the most importantreason in the thrombophilia development, which leads to a deficiency or defect in blood coagulation factors, platelet receptors, or manifests itself in the form of a hereditary predisposition. The current screening of hemostasis does not properly identify the causes of thrombosis. The development of thrombotic complications in children is a multifactorial pathological condition and requires multidisciplinary approach in diagnostic and therapeutic measures. The problem of correct in time diagnostics has the socially significant nature. Currently, international consensus and national protocols for the treatment and prevention of venous thromboembolism are regularly reviewing. In the study, the system of natural anticoagulants was evaluated in children with various pathologies. The study included 33 patients with confirmed diagnoses, including cardiovascular pathology, syndromes of nervous diseases, undifferentiatedconnective tissue dysplasia, hereditary monogenic syndrome. The results obtained indicate a high frequency of occurrence of polymorphisms in coagulation genes (in a third of children with various diseases in the study), in some children a decrease in the activity of natural anticoagulants (NAC) proteins (S,С) (from 12 to 15%) was determined, which confirms the need for the presented diagnostics to predict the condition and assess hemostasis in children.

Background. Alfa-mannosidosis is ultra-rare autosomal recessive lysosomal storage disease caused by the mutation in the MAN2B1 gene. Pathogenic nucleotide variants and structural changes in this gene lead to acid alpha-mannosidase deficiency, this enzyme is involved in oligosaccharides degradation. This disease is characterized by multisystem involvement and chronic progressive course. Clinical case description. The clinical case attracted our attention due to the late disease diagnosis in a boy living in a metropolis. The child has classic clinical manifestations of the disease: typical phenotype, spinal deformity, developmental speech and motor delays, hearing loss, hepatomegaly, splenomegaly, umbilical and inguinal hernias. Despite developmental speech delay and frequent recurrent otitis, the patient has not been referred to surdologist examination until the age of 4.5 years. Intriguing fact is the presence of congenital cataract that was the reason for surgery twice. Conclusion. Congenital cataract is one of the early manifestation of this disease. 3 out of 8 patients with alfa-mannosidosis observed in our centre had congenital cataract. We assume that such patients should be referred to genetics for the early exclusion of alpha-mannosidosis. Late diagnosis and progressive course of the disease led to early disability of the patient. Nowadays, as enzyme replacement therapy is available, it is crucial to identify these patients timely in order to improve their quality of life and increase survivability.