В работе представлены результаты расширенного генетического исследования 39 детей, наблюдавшихся в КДЦ «Охрана здоровья матери и ребенка» (г. Екатеринбург) с диагнозом «гиперфенилаланинемия». Анализ результатов обследования детей (у 13-ти пробандов наличие варианта R408W в гетерозиготном состоянии) показал, что поиск рекуррентных вариантов гена с использованием панели для ДНК-диагностики не дает ожидаемой верификации диагноза и требует дополнительного тестирования. Прямое секвенирование гена PAH позволило подтвердить диагноз «фенилкетонурия» (ФКУ) у 35 пробандов (89,8%) - у них обнаружено по 2 измененных аллеля. Еще у 4-х пациентов обнаружен только один патогенный вариант. Исследование ДНК родителей и сибсов указало на семейный вариант наследования всех выявленных мутаций. В результате проведенного исследования спектр патологии гена PAH, характерный для популяции Свердловской области, претерпел существенные изменения, что требует нового подхода к генодиагностике данной наследственной патологии в регионе. The paper presents the results of an extended genetic study of 39 children observed in the MC “Health Care of Mother and Child” (Ekaterinburg) with a «hyperphenylalaninemia». An analysis of the previously known results of the study in these patients (the p. R408W variant in the heterozygous in 13 probands) showed that the search for recurrent gene variants using the panel does not give the expected proving of the diagnosis and requires additional testing. Applying the «gold standard» of diagnosis - direct sequencing of the PAH gene, the diagnosis of phenylketonuria (PKU) was confirmed in 35 probands (89.8%) - 2 altered alleles were found in them, one pathogenic variant was found in 4 others. A study of the DNA of parents and siblings indicated a families’ variants of inheritance for all identified mutations. As a result of the study, the pathology spectrum of the PAH gene, currently in use for the population of the Sverdlovsk region, has undergone significant changes, which require a new approach to the genetic diagnosis of this hereditary pathology in the region.

The article presents a clinical example of a case of accidental diagnosis of human immunodeficiency virus in a child at the age of 1 year 10 months with an abscess in the parotid region on the left and the newly diagnosed lymphoproliferative syndrome. The expression of lymphoproliferative syndrome did not correspond to the clinical picture of the underlying disease, therefore differential diagnosis was made between such diseases as histiocytosis, haemoblastosis, primary immunodeficiency disorders, salmonellosis, yersiniosis, tuberculosis. As a result, a human immunodeficiency virus was diagnosed in a child of young age who does not have an apparently burdened history. As a result, the child was timely sent to a specialized hospital for in-depth examination and treatment.

During COVID-19 pandemic the issue of diagnosis and rational therapy of community-acquired pneumonia in children became acute. This is caused by difficulties in verification of the diagnosis of community-acquired pneumonia in the outpatient department, peculiarities of interpretation of the respiratory system lesions. The article presents clinical cases of communityacquired pneumonia in children admitted to the pulmonology department of a pediatric hospital.Clinical case 1. 5-year-old child, medical history: acutely fell ill, on 28.11.20, had a sore throat and fever up to 39.0 C. Received Kagocel, Miramistin, Nurofen. PCR for COVID-19 on 08.12.20 was positive, on 18.12.2020, 22.12.2020, 20.01.2021 - negative. Immunoassay (ELISA) on 12.23.20: IgM - 4.47, IgG - 255.25. Lung and pleural cavity ultrasound: echo signs of sharply pronounced interstitial syndrome, massive fibrinothorax on both sides, indirect signs of bronchopleural fistulas; lung radiography: bilateral polysegmental pneumonia, bilateral hydrothorax, bilateral fibrinothorax, with no marked progression; CT scan with IV contrast: CT picture of hydrothorax on the left, hydropneumothorax on the right, pleurisy on both sides, compression atelectasis of lower lobe segments of both lungs. With no marked progression. Treatment. Thoracentesis; antibiotic therapy, antimycotics, infusion therapy, immunotherapy, partial parenteral nutrition. Against the background of the therapy, positive dynamics was obtained. Clinical examples are also given: an 8-year-old child with suspected new coronavirus infection and a 5-year-old child with bilateral polysegmental pneumonia.