Metabolic infant nephropathies: a systematic review

Background. Metabolic diseases are growing, also in paediatric practice. Metabolic nephropathy is becoming more prevalent comprising 27–64% total paediatric nephrological cases, according to various published evidence. In this concern, the correct diagnosis, dietary and drug therapy acquire particular importance.Objectives. An overview of current methods for laboratory and instrumental diagnosis and treatment of metabolic nephropathies in children.Methods. National and foreign literature sources were mined in the RSCI, VAK, Scopus, Web of Science, PubMed, Cochrane Library and eLibrary databases at a search depth limited to seven years. The query keywords were: metabolic nephropathy [обменная нефропатия], children [дети], calcium oxalate crystalluria [оксалатно-кальциевая кристаллурия], therapy [терапия]. Content and descriptive analyses were used as research tools.Results. The review surveyed 74 literature sources, with 50 selected for further analysis.Discussion. Modern views on metabolic nephropathies are highlighted in terms of classification, clinical progression, methods of diagnosis, treatment and prevention. A current trend in these diseases is earlier-age morbidity. The most studied metabolic nephropathy is calcium oxalate crystalluria. The article also discusses the role of Oxalobacter formigenes bacteria in secondary oxalate nephropathy.Conclusion. Therapies for metabolic nephropathies as polyaetiologic diseases are multicomponent to target both a causal factor and lithogenesis-contributing mechanisms. Current treatment approaches to metabolic nephropathies in children are highlighted in the light of published knowledge

Rett syndrome: a clinical case

Background. Rett syndrome is a rare genetic disorder often mimicked by variant other illnesses, which hampers its timely diagnosis. Although knowledge of this pathology has grown remarkably over the past two decades, an appropriate diagnosis is necessary to exclude similar disease phenotypes and select an applicable therapy.Clinical Case Description. A 3-yo girl was admitted with a loss of earlier motor skills. The girl had neurological monitoring since month 2 of age for a delayed psychomotor development and had courses of neurotropic and reconstructive therapy, ineffective. At 18 months she was diagnosed with infantile cerebral palsy, residual period, atonic-astatic form, grade 3, rehabilitation therapy ineffective. With the disease progression and loss of motor skills, the girl was referred to the Bochkov Research Centre for Medical Genetics for sequence genotyping of the MECP2 gene, which determined a heterozygous single-nucleotide polymorphism c.468C>G (p.D156E) diagnostic of the Rett syndrome. The Rett syndrome has poor prognosis for progressive motor and neurological deficiency and eventual severe mental retardation. Patients with the Rett syndrome can have life expectancy of up to 40—50 years with appropriate care but incur a high risk of sudden death.Conclusion. The Rett syndrome is a rare disorder manifested by loss of earlier developed motor and speech skills. This report provides a clear case description and illustrates the difficulty of the syndrome timely diagnosis aggravated by a lack of specific paraclinical signatures. Molecular genotyping techniques allow a proper diagnosis and prognosis assessment in this pathology

Mucopolysaccharidosis type IVA in children: Clinical cases

Background. Mucopolysaccharidosis type IVA (Morquio syndrome) is a rare genetic lysosomal storage disease. Due to rarity, the syndrome is typically diagnosed at a later stage of gross affections of musculoskeletal and central nervous systems, leading to disability and a markedly reduced quality of life. A replacement therapy is nowadays available with recombinant human N-acetylgalactosamine-6-sulfatase (elosulfase alfa) enzyme.Clinical cases description. Two siblings, 10-yo male and 8-yo female, were admitted with complaints of growth retardation, deformity of the spine, thorax and joints, impaired hearing and visual acuity, poor tolerance to exercise. In the boy’s medical history, first manifestations appeared in the first year of life and progressed gradually; the patient was being observed as spondylodysplastic. Mental development was unaffected. The diagnosis was confirmed only by age of 7 at the National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation. Genotyping revealed two SNP mutations in gene GALNS (g.88909227C>A and g.88884454G>A in heterozygous state), and enzymatic assays — a severely reduced N-acetylgalactosamin-6-sulfatase activity. A routine elosulfase alfa replacement therapy has been received since 8-year age.The younger sister had neonatal cardiomegaly; congenital carditis and cardiomyopathy not excluded. Musculoskeletal affections developed by age of 3–4 years. By age of 5 and simultaneously with brother, the same GALNS mutations and severely impaired N-acetylgalactosamine-6-sulfatase activity were detected. A replacement therapy has been routinely received since 6-year age. The therapy triggered positive dynamics of restoring activity and muscle strength in both children, as well as significantly abating the musculoskeletal affection progress.Conclusion. The clinical cases of Morquio syndrome presented demonstrate its long-term and complex diagnosis. A replacement therapy is nowadays available, which warrants an earliest disease detection to halt progression and improve the patient’s life quality and expectancy

Atypical hemolytic-uremic syndrome in children

Background: Atypical hemolytic-uremic syndrome (aHUS) is a rare progressive form of systemic thrombotic microangiopathy (TMA), which develops due to uncontrolled activation of the alternative pathway of the complement system and is characterized by a predominant lesion of the vessels of the renal microcirculatory bed.Clinical cases description: The article describes two clinical cases of aHUS, which demonstrate the difficulties of differential diagnosis of typical and atypical HUS at the initial stages of the disease.Conclusion: Given the lack of clear laboratory criteria of aHUS, it is necessary to carry out a complex and consistent differential diagnosis of various TMA options, the exclusion of which makes it possible to make a correct diagnosis more accurately

Correlation between cough and gastroesophageal reflux in children

For many decades, the scientific community of medical professionals has wondered if there is a correlation between cough and gastroesophageal reflux. This problem is relevant for doctors of various specialties. The importance of this issue is due to practical application since it determines the tactics of diagnosis and treatment both for cough and gastroesophageal reflux. The article provides an analysis of Russian and foreign literature data, based on which we can conclude that there is a correlation between gastroesophageal reflux (gastroesophageal reflux disease) and cough

THE IMMUNOPROPHYLAXIS OF ROTAVIRUS INFECTIONS IN KRASNODAR

Aim. This research was performed to study the specific immunoprophylaxis of rotavirus infection among child population in Krasnodar.Materials and methods. There was conducted the analysis of 2386 medical records of patients who were immunized against the rotavirus infection by the pentavalent reassortant vaccine "Rotatec" for the period of 2013-2017, the assessment of the incidence of acute intestinal infections (AII) and rotavirus infection among vaccinated and unvaccinated children of the first two years of life as well as a comparative analysis of primary prophylaxis of rotavirus infection with the incidence of rotavirus infection according to data of Rospotrebnadzor for the study period.Results. Coverage of the vaccination against rotavirus infection among children in Krasnodar for the period of 2013−2017 was 5,6 % of the target cohort which is not enough to reduce the incidence of rotavirus gastroenteritis. There was demonstrated the efficacy and safety of rotavirus vaccine. During the study period vaccinated children were 2.5 times less likely to suffer from AII. No cases of rotavirus infection were reported among the vaccinated respondents.Conclusion. The leading role of rotavirus infection in severe forms of acute gastroenteritis in children of the first 5 years of life as well as the high efficiency of vaccine prophylaxis gives hope that vaccination against rotavirus infection will be included in the Russian national calendar of preventive vaccinations everywhere in the nearest future

Eosinophilic Esophagitis in Children: Clinical Cases

Background. Eosinophilic esophagitis (Ee) is a chronic immune-mediated disease of the esophagus, which is characterized by symptoms of esophageal dysfunction and marked eosinophilic infiltration of the mucous membrane (MM) of the organ. Currently, interest in the problem of eosinophilic esophagitis in the global medical scientific community is steadily growing. Eosinophilic esophagitis has no pathognomonic symptoms, which causes a great difficulty for diagnosis.Clinical case description. The paper describes two clinical cases of eosinophilic esophagitis in patient T. (4 years 10 months) and patient M. (5 years 2 months). Patient T. was admitted to the gastroenterology department of the Children’s Regional Clinical Hospital (CRCH), with complaints of hiccups, flatulence, intermittent abdominal pain, coughing when swallowing. The medical history showed that the child has been ill since the beginning of March 2021, when pain appeared in the epigastric region and along the esophagus when eating. Parents sought help in the Central District Hispital, where surgical and ENT pathologies were excluded. The child was referred to the gastroenterological department of the CRCH, where, according to the results of esophagogastroduodenoscopy (EGDS), the diagnosis of “Erosive reflux — esophagitis” was made. After stopping the erosive process the patient underwent repeated EGDS with biopsy, and was diagnosed with “Eosinophilic esophagitis”. Prescribed treatment: hypoallergenic diet, topical glucocorticosteroids (fluticasone propionate), proton pump inhibitors (PPIs), antacids. As a result of the treatment, no improvement was noted — it was decided to transfer the patient to budesonide therapy in the form of a viscous suspension, after which a persistent positive effect was observed. In the second case, the girl M. was admitted to the gastroenterological department of the Children’s Clinical Hospital with complaints of constant nausea after eating and abdominal pain. The medical history showed that the child has been sick since she was 1. The examination also revealed moderate eosinophilia, an increase in the level of alkaline phosphatase. Fibrogastroduodenoscopy with biopsy revealed endoscopic signs of EoE. A diagnosis of eosinophilic esophagitis was made. Treatment: hypoallergenic diet, glucocorticosteroids, PPI, antacids, antiemetic drugs. The treatment brought about certain positive dynamics. Conclusion. The presented clinical cases show the difficulty of diagnosing eosinophilic esophagitis, since the symptoms of this disease are not very specific

Polyarteritis Nodosa: Clinical Cases in Boys 12 and 9 Years Old

Background. Polyarteritis nodosa is an acute, subacute or chronic immune complex disease associated with peripheral and visceral artery involvement, predominantly of middle and small sizes, development of destructive-proliferative arteritis and subsequent peripheral and visceral ischaemia.Cases description. The present paper describes two clinical cases of polyarteritis nodosa in patient R., aged 12, and patient A., aged 9, and demonstrates the difficulties of diagnosing the disease in its early stages. Patient R., aged 12, was admitted to the Rheumatology Unit of the Krasnodar Krai Children’s Clinical Hospital with complaints of red, patchy, dense rash on the palms and plantar surface of the feet. The child has been ill since September 2017, and after a history of tonsillitis suffered a fever of 37 °C, pain in the right heel area, nodular thickening on the feet, livedo reticularis, swelling of both hands. The disease had a recurrent course. The boy was treated with prednisolone, mycophenolate mofetil, hydroxychloroquine and three courses of rituximab (April 2018, January 2019, September 2020). Repeated courses of human normal immunoglobulin and alprostadil therapy were carried out. The treatment showed positive dynamics, fever was eliminated, general well-being improved, and acute inflammatory markers in blood became normal. The skin retained minimal manifestation of livedo, nodularities on the feet did not progress in dynamics. Patient A. was admitted to the Rheumatology Unit of the Krasnodar Krai Children’s Clinical Hospital in April 2022 with complaints of weakness, myalgia of the lower extremities and necrosis foci in the left lumbar region. The medical history indicates that in March 2022, the boy, being in good health before, developed a bluish, painful rash on his lower legs after a workout. Skin changes and soreness resolved on their own without treatment. After examination, a diagnosis was made as follows: juvenile polyarteritis nodosa, activity score — 3.Conclusion. The diagnosis of polyarteritis nodosa can be often problematic due to the very character of the disease featured by absence of specific symptoms, by polymorphism of clinical manifestations, and by lack of clear diagnostic and laboratory markers

Digital Platform for Modeling the Development of Regional Innovation Systems of Russian Federation

The paper aims at the design of a digital tool for analyzing the impact of scientific and technological progress on socioeconomic problems and sustainable development of the region. The research focuses on the consistent development of a digital platform for analyzing and visualizing digital data on regional innovation development, as well as predicting the sustainable development of regions based on the available regional infrastructure of innovation systems and the Russian regions' cluster structure. When designing the digital platform, we gave special attention to ensuring efficient data collection, processing, and analysis processes required for studying the socio-economic system. In the course of the work, an automated process of working with data was developed. The digital platform is being developed as a flexible tool for a wide range of users, from research centers, investors, and private enterprises to individual users interested in regional innovation development models. As part of the work, the process of selecting technical tools for the software implementation of the platform in terms of tasks and technical features of designing digital platforms is presented. The result of the work is a prototype of the Russian regional innovation system digital platform with the implemented functionality of a personal account, a module of simulation experiments, and various approaches to data analysis and visualization. The research is carried out as part of a project to develop a digital model of the regional innovation system of the Russian Federation as a driver of sustainable development