РЕФЕРАТ В обзоре литературы представлены данные отечественных и зарубежных авторов о терминологии, частоте, структуре, особенностях течения и исхода CAKUT -синдрома у детей и подростков.

Background There is paucity of information on rituximab-associated hypogammaglobulinemia (HGG) and its potential infectious consequences in children treated for idiopathic nephrotic syndrome (INS). Methods A survey was distributed by the European Society Pediatric Nephrology to its members. It addressed the screening and management practices of pediatric nephrology units for recognizing and treating RTX-associated HGG and its morbidity and mortality. Eighty-four centers which had treated an overall 1328 INS children with RTX responded. Results The majority of centers administered several courses of RTX and continued concomitant immunosuppressive therapy. Sixty-five percent of centers routinely screened children for HGG prior to RTX infusion, 59% during, and 52% following RTX treatment. Forty-seven percent had observed HGG prior to RTX administration, 61% during and 47% >9 months following treatment in 121, 210, and 128 subjects respectively. Thirty-three severe infections were reported among the cohort of 1328 RTX-treated subjects, of whom 3 children died. HGG had been recognized in 30/33 (80%) of them. Conclusions HGG in steroid-dependent/frequently relapsing nephrotic syndrome (SDNS/FRNS) children is probably multifactorial and can be observed prior to RTX administration in children with SDNS/FRNS. Persistent HGG lasting >9 months from RTX infusion is not uncommon and may increase the risk of severe infections in this cohort. We advocate for the obligatory screening for HGG in children with SDNS/FRNS prior to, during, and following RTX treatment. Further research is necessary to identify risk factors for developing both HGG and severe infections before recommendations are made for its optimal management. Graphical abstract

The article provides literature data and description of the clinical case of CHARGE syndrome with an autosomal – dominant type of inheritance in a child of 3 years and 7 months. The name of the syndrome is formed by the first letters of the characteristic congenital malformations: “C” (coloboma) – optic disc coloboma, “H” (heart defects) – cardiovascular abnormalities, “A” (atresia of choanae) – atresia or stenosis of choan, “R” (retardation of growth and development) – growth deficit, developmental delay, “G” (genital anomalies) – genital anomalies, “E” (ear abnormalities and sensorineural hearing loss) – hearing organ abnormalities. A feature of the clinical case is the early diagnosis of CHARGE syndrome, manifested by bilateral optic disc coloboma; unilateral paresis of the facial nerve; congenital heart disease (open aortic duct); retardation of growth, psychomotor and psycho-speech development; cryptorchidism; bilateral anomaly of the outer ear (short, wide, absence of the lobe and external curl), sensorineural hearing loss; bilateral renal hypopalasia, chronic kidney disease.

In Russia, Hemorrhagic Fever with Renal Syndrome (HFRS) takes the leading place among all natural focal infections, the incidence rate in 2018 was 3,99 per 100 thousand population. In the Northwestern Federal District of the Russian Federation, HFRS occurs much less frequently – 1,46 cases per 100 thousand population. The disease is more susceptible to men aged 16–50 years, children rarely get sick. In 2019, 73 cases of HFRS (1,36 per 100 thousand population) were registered in St. Petersburg, among them only 2 episodes – in children under 18 years of age. A clinical case of HFRS in a child aged 1 year and 8 months is presented. The diagnosis was established on the basis of clinical and epidemiological data (acute onset of the disease, the presence of fever, thrombohemorrhagic syndrome, oliguria, anuria, information on cases of HFRS at the place of residence of the child) and laboratory data (detection of specific IgM antibodies to the Hantaan virus) in the later stages of the disease. The described case should alert pediatricians regarding possible natural focal diseases, including HFRS. A thorough analysis of the anamnestic, epidemiological and clinical data of the patient will help in the early stages of the disease to suggest a diagnosis, conduct laboratory diagnostics and prescribe appropriate therapy.

In the article are presented classifications, causes and epidemiology of acute kidney injury (AKI) in newborns, unsolved problems. Neonatal AKI classifications proposed by Acute Kidney Injury Network (2007), JG Jetton, DJ Askenazi (2012), modifications from NKC, KDIGO, and AWAKEN (2016), AKI Workshop (2017) are discussed. The results of the international assessment Assessment of Worldwide Acute Kidney Injury Epidemiology in Neonates (AWAKEN), JG Jetton et al (2016, 2017) are discussed. Of the 2022 babies, 605 (30 %) had the status of AKI: in 48 % of the 273 preterm neonates with gestatoinal age 22-29 weeks; 18 % of 916 preterm neonates with gestatoinal age 29-36 weeks; in 37 % of 833 neonates with gestatoinal age after 36 weeks. The risk factors for the development of early AKI in preterm infants include low gestational age and very low birth weight. According to international epidemiological studies, the development of AKI in premature newborns is the main and independent risk factor for mortality and the formation of chronic kidney disease. The absence of multicenter epidemiological studies of acute kidney damage in newborns in our country is still an unsolved problem. The solution of the problem facing the national neonatology should be aimed at ensuring a unified approach to the classifications of acute kidney damage, on studying epidemiology, features of development, course, and outcome of acute kidney damage of various etiologies, on developing algorithms for prevention, diagnosis and treatment in term and preterm infants.

With the using a binary logistic regression analysis, a representative model it was constructed that allows in 80,7 % of cases to predict the risk of developing bronchial asthma in children of early and preschool age with recurrent wheezing and an initially low Asthma Predictive Index (API) in school age with a high discriminatory ability (AUC = 0,901).

The article presents the terminology and classification in accordance with the International Сhapel Hill Сonsensus Сonference nomenclature of vasculitides (2012), clinical, immunological and morphological manifestations, therapy strategy and outcome of Antineutrophil cytoplasmic antibody vasculitides (ANCA) renal associated vasculitis (microscopic polyanghiitis, granulomatosis with Wegener's polyangiitis, eosinophilic granulomatosis with polyangiitis Churg-Strauss) in children and adolescents. IgG class antibodies to MPO and PR3, histopathological changes in renal biopsy specimens are considered the gold standard in the diagnosis of ANCA-glomerulonephritis. Following the recommendations of The European Vasculitis Study Group (EUVAS) in adult patients, ANCA-associated vasculitis describes the categories of disease severity: localized, early systemic, severe, generalized, refractory. An algorithm for the treatment of ANCA-associated vasculitis, recommended by EULAR (2009) for adult patients and adapted for children of L.A. Plumb et al (2018), which provides for a differentiated approach to the induction of remission in localized, early systemic, severe, generalized, refractory categories of severity and supportive therapy in localized, early systemic, generalized categories, second-line therapy. In most cases of ANCA-associated renal vasculitis in children and adolescents, it is kidney damage that manifests rapidly progressive glomerulonephritis with acute kidney damage, determines the severity and prognosis of outcome in terminal uremia. It seems important and necessary in the treatment protocols of ANCA-associated vasculitis to include a strategy for pre-dialysis and dialysis of rapidly progressive glomerulonephritis with acute kidney damage in children and adolescents.

Fraser syndrome (OMIM # 219000; ORPHA: 2052; ICD-10: Q87.0) is a rare, disease with an autosomal recessive type of inheritance is characterized by abnormalities in the development of the eyes, kidneys, larynx, ears, and bone systems (cryptophthalmos, syndactyly, abnormalities of the kidneys, urogenital tract, and respiratory system). The article presents current literature data on the phenotypic and genotypic features of Fraser syndrome, the management of patients with new opportunities for genetic diagnosis and treatment. The syndrome, described by D. Fraser in 1962, is caused by mutations in the FRAS1, FREM2, GRIP genes. The diagnosis of the Fraser syndrome phenotype is established in the presence of the main criteria (cryptophthalmos, syndactyly, abnormalities of the urinary and respiratory system, genitals, family history indicating a closely related marriage) and secondary (congenital malformations of the nose and ears, skull ossification defects, anorectal abnormalities, umbilical hernia, etc.). Molecular genetic testing proves a rare disease, requires genetic counseling. The management of patients is carried out jointly by an ophthalmologist, an otolaryngologist, an audiologist, a nephrologist, a urologist, a maxillofacial surgeon and other specialists.