Pediatriya - Zhurnal im G.N. Speranskogo最新文献

{"title":"PROSPECTS FOR THE USE OF LIPIDOMIC ANALYSIS IN THE DIAGNOSIS OF METABOLIC DISORDERS","authors":"Yu.G. Samoilova, D.V. Podchinenova, M.V. Matveeva, O.A. Oleynik, D.A. Kudlay, M.A. Kovarenko","doi":"10.24110/0031-403x-2023-102-5-174-180","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-174-180","url":null,"abstract":"Lipid metabolism disorders play an important role in the development of a number of diseases associated with obesity. However, not all obese people have the traditional abnormal clinical plasma lipid levels, which is especially common in children and adolescents. Given this controversial relationship it is necessary to clarify the new lipid biomarkers in obesity. From this point of view, of particular interest is lipidomics, which allows identifying the diversity of different types of lipids presented in a cell, tissue, biological fluid or in the entire body using tandem mass spectrometry. The human lipidomic profile reflects lipid metabolism, including the early phase of pathophysiological changes associated with the formation of the obesity phenotype. Studying the connection between the lipidome and metabolic plasticity can provide new insight into the biological mechanisms of the development of obesity and its complications, the relationship between fat and carbohydrate metabolism in the development of insulin resistance, disruption of the functioning of intestinal incretins (cholecystokinin, glucagon-like peptide 1 and 2 etc.). From a public health perspective, a thorough understanding of the pathophysiological changes that lead to obesity at the earliest stage will have far-reaching promise for slowing the enormous global incidence of obesity and type 2 diabetes mellitus. This bibliographical review was conducted using the PubMed, Google Scholar and Cyberleninka databases through 2013-2023 sources.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DRUG-INDUCED LUPUS ERYTHEMATOSUS","authors":"N.S. Podchernyaeva, A.M. Bayramkulov, N.Yu. Golovanova, M.K. Osminina, O.V. Shpitonkova","doi":"10.24110/0031-403x-2023-102-5-145-155","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-145-155","url":null,"abstract":"Medicinal or drug-induced lupus erythematosus (DIL) is an autoimmune phenomenon, which is clinically and morphologically similar to idiopathic lupus erythematosus, that occurs in patients during the long-term use of drugs, the list of which currently includes more than 100 items. To date, the pathogenesis of DIL has not been fully deciphered, and diagnostic criteria have not been developed, which determines the difficulties of diagnosis and determination of therapeutic approaches. At the same time, the widespread introduction of new classes of drugs, in particular, TNF inhibitors and other genetically engineered biological drugs associated with the risk of developing a systemic form of DIL, the use of proton pump inhibitors and chemotherapy drugs that induce subacute lupus erythematosus, allow predicting an increase in the prevalence of DIL, including in children, which in its turn determines the relevance of the problem of DIL in pediatric practice. This bibliographical review summarizes the current data on drugs that are potential inducers of DIL, possible mechanisms of development and clinical forms of the disease, principles of diagnosis and therapy.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"33 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CLINICAL, EPIDEMIOLOGICAL AND REPRODUCTIVE ASPECTS OF HYPOSPADIAS. A BIBLIOGRAPHICAL REVIEW","authors":"L.N. Lyubchenko, A.D. Kaprin","doi":"10.24110/0031-403x-2023-102-5-190-198","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-190-198","url":null,"abstract":"Hypospadias refers to a congenital pathology of the genitourinary system. This bibliographical review analyzes and systematizes historical, epidemiological, clinical, populational and genetic data, highlights the problem of reproductive health of adult patients. An expert evaluation of materials related to the modern classification of hypospadias for both genders, diagnosis, surgical treatment options, family planning and childbearing taken from the PubMed database of the scientific periodicals was carried out. Authors noted the increased dynamics of the disease in the population. Hereditary predisposition of hypospadias was confirmed as well as the inverse proportionality of the severity of the disease and the ability of a patient to enter the relationships and the reproductive function in the event that hypospadias is not aggravated by testicular dysfunction, reduction of the vas deferens and other factors.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"75 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"USE OF FLUORESCENCE-GUIDED SURGERY IN CHILDHOOD","authors":"Yu.A. Kozlov, S.S. Poloyan, A.A. Marchuk, A.P. Rozhanskiy, A.A. Byrgazov, K.A. Kovalkov, Ch.B. Ochirov, V.M. Kapuller, A.N. Narkevich, V.S. Cheremnov","doi":"10.24110/0031-403x-2023-102-5-198-207","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-198-207","url":null,"abstract":"Fluorescent-guided surgery using indocyanine green (ICG) is a rapidly expanding surgical technology, but its application in pediatrics remains unknown. Authors represent a descrip-tive analysis of the current applications of ICG in pediatric surgery based on a systematic bibliographical review on this topic. Material and methods used: the study searched articles in 3 major scientific databases (MEDLINE, PubMed and eLIBRARY.RU) published after 2000 for the keywords as follows: fluorescent-guided surgery, indocyanine green, ICG navigation, children. Two researchers independently reviewed the titles and abstracts of the primary search to avoid discrepancies. Results: initial database search yielded 762 titles. After the exclusion, 25 full-text publications were included in the generalization. Most studies were conducted in Italy (n=6) and the UK (n=6) followed in descending order by North America (n=5), Japan (n=4), Spain (n=2) and China (n=2). The distribution by time of publication was as follows: 2019 - 3, 2020 - 2; 2021 - 8; 2022 - 12. A systematic review includes 396 surgical interventions performed on pediatric patients using ICG. The most frequently performed surgical procedure in childhood was the Palomo varicocelectomy (66). This is followed by: abdominal tumors - 59, esophageal anastomosis - 53, renal cyst and duplication - 38, chest tumors - 37, ovarian tumors - 28, cholecystectomy - 26, kidney tumors - 24, liver tumors - 19, identification aortocoronary fistulas - 16. Most often, the drug was administered during the operation - 15 publications, 1 day before the operation - 9 publications, immediately be-fore the operation - a single publication. The methods of administration were distributed as follows: intravenous - 21, intraluminal - 2, intraorgan - 1, intratesticular - 1. Dosing of the drug depends on the method of application of ICG and the area of its application. Most of-ten, the drug was used intravenously in dosages from 0.1 to 0.75 mg/kg. For tumors, in-creased doses of the drug were used from 1.5 mg/kg for tumors of the abdominal cavity to 2 mg/kg for hyperinsulinism. Insufficient visualization of anatomical objects was only re-ported in 3 cases. Information about the side effects of the introduction of ICG in the body of a child is scarce and is represented by only 2 mentions of cardiac arrest and desaturation, which both ended safely. Conclusion: current trends demonstrate that fluorescent-guided surgery has become commercially available and is increasingly being used among pediatric surgeons to treat a wide range of diseases, including hepatobiliary surgery, oncology, urolo-gy, cardiac and vascular surgery, and is also used to assess blood flow in operated organs of a patient.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"75 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COMPLEX REGIONAL PAIN SYNDROME IN CHILDREN: A BIBLIOGRAPHICAL REVIEW AND A PEDIATRIC TRAUMATOLOGIST-ORTHOPEDIST’S CASE REPORT","authors":"S.A. Rubashkin, A.V. Sertakova, A.S. Rubashkin","doi":"10.24110/0031-403x-2023-102-5-230-236","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-230-236","url":null,"abstract":"Complex regional pain syndrome (CRPS) in children has specific features that distinguish it from the adult form. In addition, there are no specific data on possible manifestations, diagnostic criteria and therapeutic aspects of this pathology. Depending on the severity of symptoms, CRPS leads to functional disorders of the body, a decrease in the quality of life. The research includes a case report of a patient with CRPS in the distal segment of the limb (foot); the diagnosis was made 4 months earlier and the patient responded well to the treatment. The Authors also speculate about CRPS determinants. In the reported case, the combination of following factors was revealed: a pathological relationship in the talonavicular and calcaneal junction (vertical talus) making the normal biomechanical movements in the foot impossible; trauma; hypersthenic physique of a child with pronounced subcutaneous fat in the foot as well. No genetic criteria or significant neurological abnormalities were identified in the patient. Undoubtedly, the causes and ways of CRPS occurrence in children should be carefully studied by pediatricians as well as experts in other fields.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"250 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"INFLIXIMAB IN THE TREATMENT OF IMMUNOGLOBULIN-RESISTANT KAWASAKI DISEASE","authors":"S.Kh. Kurbanova, L.V. Bregel, M.M. Kurako, A.O. Marandzhian, M.G. Kantemirova, Yu.Yu. Novikova, S.I. Valieva","doi":"10.24110/0031-403x-2023-102-5-246-251","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-246-251","url":null,"abstract":"Kawasaki disease (KD) is an acute systemic disease characterized by predominant damage to small and medium-sized arteries with the development of destructive-proliferative vasculitis, damage to the coronary arteries (CA) and other visceral arteries manifested by fever, changes in the mucous membranes, skin, and lymph nodes. The initial KD therapy is intravenous immunoglobulin (IVIG) at a dose of 2 g/kg coupled with acetylsalicylic acid. However, 10% to 38% may be resistant to standard therapy. There are no uniform recommendations for the management of patients with immunoglobulin-resistant KD. Possible therapies include repeated IVIG, high-dose glucocorticoids, genetically engineered biological drugs and other cytostatic drugs. Authors represent a clinical case of a 4-month-old boy with a complete form of KD, giant CA aneurysms and a resistance to the previous 4 courses of immunomodulatory therapy (2 courses of IVIG, etanercept, pulse therapy with methylprednisolone) with the effective use of the tumor necrosis factor alpha blocker, infliximab.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CARDIOVASCULAR SYSTEM LESIONS, RISK FACTORS AND PREDICTORS FOR ADVERSE OUTCOMES IN CHILDREN WITH KAWASAKI DISEASE","authors":"S.Kh. Kurbanova, M.G. Kantemirova, A.A. Glazyrina, Yu.Yu. Novikova, O.A. Korovina, S.I. Valieva, M.A. Abramyan, V.V. Gorev, D.Yu. Ovsyannikov","doi":"10.24110/0031-403x-2023-102-5-68-78","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-68-78","url":null,"abstract":"Purpose of the research was to study the structure of the cardiovascular system (CVS) lesions, risk factors and predictors for adverse outcomes in children with Kawasaki disease (KD). Materials and methods used: a single-center retrospective cohort study of 188 patients (126 boys/62 girls) aged 2 months to 11 years old with KD in 2014-2019. Depending on the outcome of the disease, the two groups of patients were identified: those with recovery (171/188, 91%), and with unfavorable outcomes (17/188, 9%) in the form of persistent coronary artery aneurysms (CAA) in 12 (6.4%) cases and death in 5 (2.7%) cases. Authors used the clinical-anamnestic method, clinical and biochemical blood tests and coagulogram. The diagnosis of CVS changes was based on the results of echocardiography, magnetic resonance angiography, coronary angiography and ultrasound of non-coronary vessels. The levels of N-terminal fragment of B-type brain natriuretic peptide (NT-proBNP) and atrial natriuretic peptide precursor (proANP) were determined. Results: CVS lesions in the acute period of KD were detected in 92 (48.9%) patients. Non-coronary changes in the cardiovascular system, represented by myocarditis (25%), pericarditis (9.6%), transient mitral valve insufficiency (26.1%) with valvulitis (4.3%) were determined in the acute and subacute periods of KD. Damage to the coronary arteries (CA) in the acute period, according to echocardiography, was detected in 61 (32.4%) children, of which: coronaritis - in 43 (22.8%), transient ectasia - in 9 (4.7% ), CAA of various sizes - in 49 (26.1%). Predictors of unfavorable KD outcomes are the presence of coronary (p=0.000) and non-coronary changes (p=0.001) in the cardiovascular system during the acute period of the disease, blood clots of any location (64.7% v. 3.5%, p=0.000). Based on the results of univariate logistic regression analysis, significant threshold levels of natriuretic peptides were established to determine the risk of developing adverse KD outcomes: an increase in NT-proBNP in the acute period of KD more than 984 pg/ml with 79% sensitivity, 84.8% specificity, 82.9% overall predictive value; an increase in proANP greater than 1.015 nmol/l with 87.5% a sensitivity, 75.8% specificity and 78.0% overall predictive value. Conclusion: risk factors and predictors for the unfavorable KD outcomes have been identified as follows: the appearance in the acute period of CAA of medium and especially giant sizes, pericarditis, myocarditis, damage to the valvular apparatus, thrombosis of the coronary artery and cardiac cavities, high levels of proANP, NT-proBNP, which can be used as a diagnostic tool in KD with poor outcomes.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"45 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"OUTCOMES OF TREATMENT FOR SYSTEMIC LUPUS ERYTHEMATOSUS USING THE BIOSIMILAR RITUXIMAB BCD020 COMPARED WITH THE STANDARD NON-BIOLOGIC THERAPY. A RETROSPECTIVE COHORT STUDY","authors":"E.M. Kalashnikova, R.K. Raupov, V.V. Masalova, E.A. Isupova, E.V. Gaidar, M.F. Dubko, L.S. Snegireva, L.S. Sorokina, T.L. Kornishina, M.A. Kaneva, I.A. Chikova, T.S. Lihacheva, O.L. Kolobova, O.V. Kalashnikova, V.G. Chasnyk, M.M. Kostik, D.O. Ivanov","doi":"10.24110/0031-403x-2023-102-5-59-68","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-59-68","url":null,"abstract":"Systemic lupus erythematosus (SLE) is an immunopathological disease characterized by various systemic malfunction and a prognosis for unfavorable outcomes. In the current standards of treatment for SLE the biological therapy is not included in the first line of therapy. The data from previous studies do not allow drawing a clear conclusion about the benefits of using biological therapy. The purpose of this research was to study the outcomes of SLE therapy using the rituximab biosimilar BCD020 compared with the standard non-biological therapy. Materials and methods used: a single-center cohort retrospective study of 79 medical records of children aged 0 to 18 y/o suffering from SLE were analyzed: 19 received rituximab as part of multicomponent therapy in the first 6 months from the onset of the disease, the remaining 60 received standard non-biological therapy. Damage to organs and systems, laboratory data, doses of corticosteroid therapy and disease activity were assessed using the SELENA-SLEDAI tool at the time of initiation of therapy and one year after. Results: higher degree of disease activity involving the central nervous system and kidneys was noted in the group of children receiving rituximab therapy. No statistically significant difference between the data of the two groups, including disease activity, was noted in 12 months after the start of the therapy. There was a statistically significantly more pronounced decrease in the SLEDAI activity index after a year in the group of children who received rituximab (p=0.001) compared to children who did not receive it. During rituximab therapy, infectious complications were noted in 3 cases, including the development of meningitis; and a single patient had developed with bicytopenia. Conclusion: rituximab was used in children with higher disease activity, with involvement of organs and systems whose damage leads to an unfavorable prognosis (CNS and renal damage). Rituximab can be considered as an option in the treatment of severe variants of SLE with a poor prognosis due to its ability to more intensively arrest disease activity compared to standard non-biological therapy.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"78 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CLINICAL AND DIAGNOSTIC VALUE OF ANTINUCLEAR ANTIBODIES IN A PEDIATRIC PHYSICIAN’S PRACTICE (PART 3)","authors":"N.S. Podchernyaeva, M.N. Nikolaeva, A.M. Bayramkulov","doi":"10.24110/0031-403x-2023-102-5-123-134","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-5-123-134","url":null,"abstract":"Antinuclear antibodies (ANA), first discovered many decades ago in patients with systemic lupus erythematosus (SLE), still remain a diagnostic criterion for this disease. However, subsequent studies have shown that the range of diseases in which ANA are detected is extremely wide and includes not only systemic rheumatic diseases, but also other autoimmune diseases (AD), including autoimmune cytopenias, autoimmune liver diseases, gastrointestinal diseases, autoimmune pathology of the thyroid gland and other endocrine glands, autoimmune skin diseases etc. The low specificity of ANA determines their relatively low diagnostic value, which increases when taking into account the luminescence pattern, indicating the presence of certain autoABs. The presence of ANA in patients with AD has a certain prognostic significance since in a number of diseases it is associated with their clinical features and the nature of the process as well as the expected response to the treatment with various drugs. Due to the fact that various AD are often combined in patients, the detection of ANA may be a reason for expanding the examination aiming to diagnose them in a timely manner. See Part 2 at N.S. Podchernyaeva, M.K. Osminina, E.V. Frolkova, M.A. Kudryashova, M.R. Gripp, N.Yu. Golovanov. Clinical and diagnostic value of antinuclear antibodies in a pediatric physician’s practice (Part 2). Pediatria n.a. G.N. Speransky. 2023; 102 (2): 78-89. DOI: 10.24110/0031-403X-2023-102-2-78-89, and Part 1 at N.S. Podchernyaeva, L.G. Khachatryan, M.K. Osminina, E.V. Frolkova, M.A. Kudryashova. Clinical diagnostic value of antinuclear antibodies in pediatric practice (part I). Pediatria n.a. G.N. Speransky. 2022; 101 (3): 185-198. - DOI: 10.24110/0031-403X-2022-101-3-185-198.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"118 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135805053","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"GENETIC CAUSES FOR STEROID RESISTANT NEPHROTIC SYNDROME: A BIBLIOGRAPHICAL REVIEW","authors":"A. Milovanova, P. Ananin, K. Savostyanov, A. Tsygin","doi":"10.24110/0031-403x-2023-102-4-100-111","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-4-100-111","url":null,"abstract":"Nephrotic syndrome (NS) is a severe glomerulopathy characterized by severe proteinuria, hypoproteinemia, hypoalbuminemia, hyperlipidemia and widespread edema. There’ve been over sixty genes identified to date that are responsible for the development, structural integrity and functioning of podocytes. Pathogenic nucleotide variants of these genes lead to the podocytopathy in steroid-resistant nephrotic syndrome in 30% of cases. Depending on the protein damaged, the severity of the course, the extrarenal manifestations as well as the therapeutic options may vary. The molecular genetic research has therefore resulted in the fore in recent decades when pediatric patients with steroid-resistant NS are diagnosed.","PeriodicalId":39654,"journal":{"name":"Pediatriya - Zhurnal im G.N. Speranskogo","volume":"37 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72476875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}