Pediatria. Journal named after G.N. Speransky最新文献

{"title":"Age-determined dynamics of T-lymphocyte subpopulations in patients with 22q11.2 deletion syndrome (DiGeorge syndrome)","authors":"N. Davydova, N. V. Zinovyeva, S. Zimin, O.V. Shvets, E. Galeeva, I. A. Korsunskiy, A.P. Prodeus, G. N. Gildeeva, I. G. Kozlov","doi":"10.24110/0031-403x-2024-103-4-115-124","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-115-124","url":null,"abstract":"Patients with the 22q11.2 deletion syndrome (DiGeorge syndrome, DDS) suffer from T-cell lymphopenia, changes in function and subpopulation of T-lymphocytes. The bibliographical data conflicts on the characteristics of T-lymphocytes in patients with DDS and their changes during physiological maturation. The purpose of this research was to follow-up patients with emphasis on the dynamics of changes in T-lymphocyte subpopulations with age. Methods used: 117 patients observed during 2013-2023 who were administered at the Allergology and Immunology Department with the G.N. Speransky City Children’s Hospital No. 9 (Moscow, Russia) with a diagnosis of DDS and who had undergone blood sampling to assess T-lymphocyte subpopulations using flow cytometry. All patients (0 to 18 y/o) were divided into 4 age groups: 0 to 2 y/o, 2 to 5 y/o, 5 to 10 y/o and 10 to 18 y/o. In parallel, the blood samples of 185 apparently healthy children of the corresponding age were examined. Results: a decrease in CD3 T-lymphocytes, CD4 T-helper cells, CD8 T-cytotoxic lymphocytes, CD4 early thymic emigrants and CD4 naive T-lymphocytes was found in all age groups (p<0.05). CD8+ naive T-lymphocytes and CD8+ early thymic emigrants were reduced in all age groups, but in the 2 to 5 y/o age group their values were close to normal (p=0.072 and p=0.220, respectively). CD4+ central memory cells were elevated in all age groups (p<0.001), while CD8+ central memory cells, CD4+ and CD8+ effector memory cells differed in that they had normal values in the 2 to 5 y/o age group (p=0.229, p=0.457 and p=0.140, respectively). CD4+ TEMRA were significantly increased in the 0 to 2 y/o age group (p=0.002), and in older age groups they tended to normal values. CD8+ TEMRA did not differ from the control group and did not have age-related dynamics. The T-helper subpopulations were characterized by a significant increase in the percentage of T-helper type 1, T-helper 17, T-helper 17.1 and a decrease in T-helper type 2 compared to the population of healthy blood sample donors (p=0.001), except for patients from the 2 to 5 y/o age group. T-regulatory cells in absolute amount were reduced in all age groups (p<0.001), while their relative number corresponded to the norm in the 0 to 2 y/o age group (p=0.811) and decreased slightly in patients in older age groups, especially in the 2 to 5 y/o age group (p=0.030). Conclusion: the pathology of thymus development in patients with DDS leads to impaired maturation of T-lymphocytes, leading to an increase in the number of mature forms of T-lymphocytes, shifts towards the development of T-helper 1 and T-helper 17, and a decrease in T-regulatory cells. Disturbances in T-lymphocytes can cause changes (dysregulation) in subpopulations of B-cells. All these processes may underlie the progression of autoimmune and infectious complications in such patients that are increasing with aging.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"12 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141921505","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 variants of X-linked Alport syndrome in children: a single-center cohort study","authors":"M.E. Aksyonova, N. Konkova, O.R. Piruzeyeva, N. M. Zaykova, T.V. Lepayeva, T. Nikishina, V. Obukhova, L. Prikhodina","doi":"10.24110/0031-403x-2024-103-4-25-30","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-25-30","url":null,"abstract":"X-linked Alport syndrome (XLAS) is a monogenic disease characterized by the progressive nephropathy development, sensorineural hearing loss and the lens and retina pathology. The clinical manifestations of the syndrome and the renal prognosis of patients are determined by the nature of the gene COL4A5 mutation. The range of COL4A5 genetic variants is different among populations. Information about the XLAS genetic structure in Russian pediatric cohort is insufficient. The purpose of this research was to determine the features of the spectrum of the gene COL4A5 genetic variants in children with XLAS. Materials and methods used: a single-center retrospective cohort study included children aged 2 to 17 y/o with genetically confirmed XLAS. Descriptions of variants in gene COL4A5 were performed using genome build GRCh37/hg19 in accordance with the reference sequence GRCh37/hg19 (Reference Sequence, HGVS) and the American College of Medical Genetics and Genomics (ACMG), AMP Clinical Practice Guidelines. Results: analysis of data from 174 probands from unrelated families showed that 108 (62%) children had missense variants in gene COL4A5 (62% v. 38%, missense v. non-missense variants, respectively, p=0.028), 24 (13.8%) had mutations leading to impaired RNA splicing, 17 (9.8%) had frameshift mutations, 14 (8%) had gene deletions and 10 (5.7%) had nonsense mutations. Missense variants were predominantly localized in the collagen domain compared to the non-collagen domain (n=102, 94.4%, p<0.001), in exons 18 to 41 (n=94; 94.8%) and were represented by glycine substitutions (n=90, 83.3%). Two common variants were identified in the cohort: NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) in 28 (26%) and NM_033380.3(COL4A5):c.3319G>A (p.Gly1107Arg) in 4 (3.7%). Conclusion: the structure of COL4A5 genetic variants in the studied cohort was comparable with the current Worldwide data, such as two thirds of the examined had missense variants and ca. one-fifth had genetic variants leading to the protein synthesis absence. Two common missense variants in gene COL4A5 were identified, including the common variant NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) that is of frequent occurrence in the European population.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"57 28","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141923308","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":"Magnetic resonance imaging in the diagnosis of steatosis in metabolic-associated fatty liver disease in adolescents","authors":"A. A. Zvyagin, N.Yu. Fateyeva, L.V. Moshurova, T. V. Chubarov, M.A. Denisova, V.A. Ermolovskaya","doi":"10.24110/0031-403x-2024-103-4-74-80","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-74-80","url":null,"abstract":"Incidence of overweight and obesity is increasing among the child population Worldwide. The prevalence of fatty liver disease is increasing as well. The transition to the new term “metabolically associated fatty liver disease” (MAFLD) implies the identification of hepatic steatosis and its quantitative assessment. Magnetic resonance imaging (MRI) has significant advantages for assessing hepatic steatosis, but is rarely used in pediatric practitioners’ routine. The purpose of this research was to improve the quality of MAFLD diagnosis in adolescents with obesity by identifying steatosis and liver fibrosis using MRI. Materials and methods used: 30 adolescents aged 12 to 17 y/o, 17 (56.7%) boys/13 (43.3%) girls, with obesity and diagnosed MAFLD were examined (MRI of the liver was performed with Philips Ingenia 1.5T). Results: hepatic steatosis was detected in 22 (73.3%). The percentage of liver fatty fraction was determined from 0.5% to 76%, the median was 25.50% [6.38; 38.75]. In accordance with the classification of steatosis by degree, S1 was determined in 12 (40.0%), S2 in 8 (26.7%) and S3 in 2 (7%). In 8 (26.7%) there was no steatosis (“S0”). Pancreatic steatosis was detected in 2 (6.7%). Liver steatosis was detected in the 1st degree obesity in 62.5%, in 83.3% in the 2nd degree, in 71.4% in the 3rd degree and in 77.8% in the 4th degree. All the three degrees of liver steatosis were diagnosed with a predominance of the 1st, which was determined in 40.0%, S2 in 26.7% and S3 in 7%. Conclusion: in obesity in adolescents with MAFLD and/or steatohepatitis, MRI reveals liver steatosis in 73.3% of patients. There was no difference (p=0.252) in the incidence of degrees of liver steatosis detected by MRI among different degrees of obesity. Dyslipidemia and insulin resistance were detected regardless of the presence and degree of liver steatosis. Since MRI is a non-invasive and informative method for examining children with MAFLD, it does allow rather more accurate assessment of the adipose tissue presence in the liver compared to a ‘routine’ ultrasound.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"90 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141921789","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":"Incidence and structure of gluten-dependent diseases among gastroenterological pediatric patients in Uzbekistan: a cohort prospective study","authors":"A. T. Kamilova, Z. Umarnazarova, D. A. Abdullaeva, S. Geller, G. Azizova, N. Azimova, K. Usmanova","doi":"10.24110/0031-403x-2024-103-4-100-109","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-100-109","url":null,"abstract":"Gluten-related disorders (GRDs) are characterized by different pathogenetic development pathways though are having similar clinical manifestations that make its differential diagnosis rather difficult. In the bibliographical sources available currently there were no research works such as a one-time study of the GRDs’ incidence among children. The purpose of this research was to determine the incidence and clinical and laboratory features of celiac disease (CeD), wheat allergy (WA) and non-celiac gluten sensitivity (NCGS) among children with gastroenterological complaints residing in Uzbekistan. Materials and methods used: a single-center cohort prospective study had been carried out in 2021-2022 on the basis of the Uzbekistan Republican Specialized Scientific and Practical Medical Center for Pediatrics of the Ministry of Healthcare of Uzbekistan (Tashkent, Uzbekistan) with 336 children with suspected gluten intolerance aged from 1 to 16 y/o who participated in the study. At the first stage 206 were selected after a short questionnaire developed by the Authors. For the following stage the specific laboratory tests were performed as follows: determination of antibodies (AT) to tissue transglutaminase IgA and total IgA (AT to tissue transglutaminase IgG, total IgG and IgM in IgA deficiency cases), total and specific IgE levels to wheat and gluten, HLA class II genotyping, histological examination of a biopsy specimen of the mucous membrane of the subbulbic part of the duodenum based on indications. The Salerno criteria were used to confirm the NCGS diagnosis. Results: the GRDs incidence among the studied cohort was 17.5% (95% CI: 12.29; 22.6), of which 5.3% (95% CI: 2.27; 8.41) had CeD, 7,3% (95% CI: 3.73; 10.83) had WA and 4.9% (95% CI: 1.92; 7.89) were diagnosed with NCGS. The most significant symptoms in children with GRDs were bloating, diarrhea and abdominal pain. The leading symptom for NCGS was headache. Allergic pinpoint rash with scratching traces were detected in patients with WA. Conclusion: this research was the first to study the GRDs incidence in Central Asia and it had showed that CeD and WA are pretty common among children with gastroenterological complaints in Uzbekistan and that the NCGS incidence does correspond to the average statistical data published priorly.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"18 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141925057","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":"Conservative treatment of pediatric patients with congenital and infantile nephrotic syndrome: a single center retrospective study","authors":"A. Milovanova, P. Ananyin, T. Vashurina, O. Zrobok, K. Savostyanov, A. Tsygin","doi":"10.24110/0031-403x-2024-103-4-44-53","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-44-53","url":null,"abstract":"Treatment tactics for patients with congenital nephrotic syndrome (CNS) varies from aggressive kinds, such as early nephrectomy, to conservative ones that include diuretic and nutritional support. The purpose of this research was to assess the effectiveness of conservative treatment of children with congenital and infantile nephrotic syndromes. Materials and methods used: a single-center retrospective study of 11 pediatric patients who had been manifested with NS within their first year of life and had required diuretic therapy, was conducted. The effectiveness of conservative therapy was assessed as preservation of the renal function according to glomerular filtration and satisfactory weight/height and height alone parameters’ dynamics that ensure the safety of kidney transplantation. Results: despite the molecular genetic study was conducted in all 250 children with NS, the described 11 have had verified pathogenic variants as follows: in the NPHS1 gene in 5 (45.5%, CI 16.8-76.6%), in the NPHS2 gene in another 5 (45.5%, CI 16.8-76.6%) and a single patient with none of a kind. It was revealed that despite the persistence of pronounced NS laboratory activity, the edema gradually disappeared against the background of conservative therapy, which in its turn had made it possible to refrain from early nephrectomy as well as to begin the renal replacement therapy over the age of 3 (4) y/o. 9 (81.8%, CI 48.2-97.7%) had satisfactory weight and height parameters at the age of 3 y/o. Only a single patient had undergone the early nephrectomy at the age of 4 months old, that was then followed by a successful kidney transplant at the age of 1 year and 4 months old, which, however, did not affect the then positive height prognosis. Conclusion: thus, reasonably selected conservative therapy for CNS can be effective against edematous syndrome and contribute to satisfactory weight/height growth parameters without early nephrectomy and, accordingly, the start of dialysis during the first year of life.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"53 48","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141923873","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":"Spectrum of clinical manifestations of X-linked Alport syndrome in girls: a single-center cohort study","authors":"M.E. Aksyonova, N. Konkova, O.R. Piruzeyeva, T.V. Lepayeva, T. Nikishina, V. Obukhova, L. Prikhodina","doi":"10.24110/0031-403x-2024-103-4-31-36","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-31-36","url":null,"abstract":"X-linked Alport syndrome (XLAS) is an inherited disorder caused by genetic variants in gene COL4A5. The frequency and the severity of clinical manifestations as well as the risk of glomerulopathy progression are variable in XLAS in females, and the disease course features have not been sufficiently studied as yet. Since patient management tactics is determined by the disease course nature, studying the spectrum of XLAS clinical manifestations and prognosis in girls remains relevant. The purpose of this research was to determine the spectrum and the features of clinical manifestations of XLAS in girls. Materials and methods used: a single-center cohort prospective study was carried out by the Authors that included 74 girls aged 2 to 17 y/o with genetically proven XLAS diagnosis. Authors have analyzed the patients’ medical records identifying sensorineural hearing loss (SNHL), arterial hypertension (AH; blood pressure (BP) over 95% than at the patient’s age/height), albuminuria (Alb; norm<30 mg/mmol of creatinine), proteinuria (Pr; norm<100 mg/sq m/day) - with its degree, decrease in estimated glomerular filtration rate (eGFR, ml/min/1.73 sq m; norm≥90 ml/min/1.73 sq m) and angiotensin-converting enzyme inhibitors (ACEIs) therapy data. Results: all patients had hematuria with episodical macrohematuria in 27% of cases, proteinuria in 40%, eGFR decrease in 15%, SNHL in 8% and peripheral retinopathy in 7%. Girls with missense v. those with non-missense variants of COL4A5 more often had macrohematuria (0.15 v. 0.05; p=0.015) and albuminuria (1 v. 0.5; p<0.001) whilst no statistically significant difference was showed in proteinuria frequency and age of onset (0.48 v. 0.5 and 6.5 [3; 11] v. 5 [5; 8] y/o), eGFR decrease (0.15 v. 0.15; 12.4±2.6 v. 13.2 ±2.8 y/o), SNHL (0.07 v. 0.1; 13±2.8 v. 14.4±3.1 y/o) and retinopathy (0.04 v. 0.15; 14.3±3.5 v. 12.6±2.9 y/o). ACEIs therapy did not show any statistically significant effect on the cumulative proportion of patients with both proteinuria and eGFR decrease (log-rank test=1.25, p=0.213 and log-rank test=0.66, p=0.512, respectively). Conclusion: the results obtained demonstrate the need for a dynamic follow-up of girls with XLAS with the purpose of earliest possible detection of proteinuria and timely prescribing with nephroprotective therapy as well as hearing loss diagnosing and timely audiological correction.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"8 49","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141921706","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 the new Versius Surgical Robotic System in surgical interventions on children: Russia’s clinical trials results","authors":"Y. Kozlov, S. Poloyan, E. V. Sapukhin, A. Strashinskiy, M. V. Makarochkina, A.P. Rozhanskiy, A.O. Ryakhina, Yu.P. Semshchikova, A. N. Narkevich","doi":"10.24110/0031-403x-2024-103-4-125-135","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-125-135","url":null,"abstract":"Authors represent the Russia’s first research demonstrating the results of the use of the Versius modular & portable surgical robot by “CMR Surgical,” Ltd. (Cambridge, Cambridgeshire, United Kingdom) in surgical interventions on pediatric patients that they’ve obtained as part of the clinical trials complex approved by the Federal Service for Surveillance in Healthcare of Russia (“Roszdravnadzor”). The purpose of this research was to obtain practical evidence of the clinical safety and effectiveness of the use of the new Versius® Surgical Robotic System in minimally invasive surgical interventions on children. The criteria for the safety and effectiveness of the method were the absence of complications caused by the Surgical Robotic System (SRS) operation or the surgical technique as well as the absence of dropping into either laparoscopy or open surgery technique. Material and methods used: non-randomized single-center controlled trial had been carried out in children aged 1 to 18 y/o. Areas of application for surgical procedures included urology, abdominal and thoracic surgeries. Results: the number of patients who had undergone the robot-assisted surgeries had totaled 55 (27 (49%) m/28 (51%) f). The patient’s median age of the surgical intervention was 11.5 [7.0; 15.0] y/o; the median weight was 45.5 [27.0; 59.0] kilograms; the median surgical intervention duration was 140.0 [85.0; 175.0] minutes; patients’ stay in the intensive care unit had averaged for 23.0 [19.0; 24.0] hours; the average hospitalization duration was 8.0 [4.0; 14.0] days. Surgical interventions weren’t accompanied by any of the intraoperative complications such as bleeding, organ perforation and/or injury to adjacent anatomical structures. Conversions to either laparoscopic or open surgery technique also weren’t recorded. The equipment technical problems with SRS such as sudden system power-off, synchronous interaction of joysticks/manipulators interruption, robotic arms blocking, manipulators’ uncontrolled movement and/or traumatic effects on the tissues of the abdominal wall/chest weren’t recorded as well. Conclusion: the preliminary results obtained from the clinical trials complex affirm the potential ability of the Versius® Surgical Robotic System to performing robotic surgical interventions on pediatric patients aged 1 to 18 years old.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"59 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141922769","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":"Russian regional congenital diaphragmatic hernia populational incidence according to the Nationwide Birth Defects Register","authors":"N. Demikova, A. N. Putintsev","doi":"10.24110/0031-403x-2024-103-4-110-115","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-110-115","url":null,"abstract":"Congenital diaphragmatic hernia (CDH) is a severe birth defect characterized by impaired development of the diaphragm that leads to displacement of the abdominal organs into the chest with incidence from 2 to 4 per 10,000 births and its interregional differences that determine the need for assessing the regional incidence. The purpose of this research was to determine the populational CDH incidence and its dynamics in Russia regions based on the data from nationwide epidemiological monitoring of birth defects (BDs). Materials and methods used: the analysis included 2011-2022 data from a cohort study based on BDs epidemiological monitoring from 25 regional registers. In total there were 1493 BD cases among live births, stillbirths and eliminated fetuses with malformations that were included in the study with the total birth count of 5,366,657. Results: the overall CDH incidence in the 25 selected Russia regions was 2.78 per 10,000 births (95% CI 2.71-2.85) without any significant change in its dynamics over the observed period. Interregional differences in CDH incidence were revealed as follows: the maximum incidence of 4.49 (95% CI 3.92-5.06) was registered in the Republic of Sakha (Yakutia); the minimum of 1.23 (95% CI 0.76-1.69) was registered in the Novgorod Oblast. The gender ratio of those affected was 1.2 males per 1 female. The majority of cases (53.81%) were represented by liveborn children, the proportion of stillborns was 5.99%, the proportion of fetuses with diaphragmatic hernia (DH) was 40.2%. 68% were represented by cases of isolated DH v. 32% of a combination of ВР with another BDs among all cases. Conclusion: this study has revealed the CDH incidence rates in 25 selected Russia regions, the incidence variety between the regions with the stability of it in dynamics. Conducting such epidemiological studies is important for understanding the nationwide spread of diseases and identifying risk factors that are important for the prevention and treatment of diseases.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141923192","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 AND PHENOTYPIC PROFILE OF PEDIATRIC PATIENTS WITH ATYPICAL HEMOLYTIC-UREMIC SYNDROME","authors":"Khadizha M Emirova, O.V. Krasko, T.Yu. Abaseyeva, T. Pankratenko, A. Muzurov, V. Vakhitov, M.K. Soboleva, A. L. Shavkin, I. N. Lupan, V. Albot, L.A. Ledenko, T. P. Makarova, D. Kudlay, O. Zaytseva, N. Shumeyko, O. Orlova, G. A. Generalova, S. Mstislavskaya, A.V. Popa, M. V. Kvaratskheliya, N.V. Shironina, P. Shatalov, P. V. Avdonin, P. P. Avdonin","doi":"10.24110/0031-403x-2024-103-4-8-24","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-8-24","url":null,"abstract":"Atypical hemolytic uremic syndrome (aHUS) is a life-threatening disease caused by dysregulation of the alternative complement pathway as a result of mutations in complement genes or the formation of antibodies (AB) to some of the complement factors. Identification of the gene mutations incidence and the corresponding phenotypic features in pediatric patients with aHUS in Russia is aimed at improving the diagnosis and prognosis of the disease as well as treatment tactics planning for patient management. The purpose of this research was to determine the patterns of progression, prognosis and outcomes of aHUS in children depending on their genetic profile. Materials and methods used: the Article represents data from a retro- and prospective analyses of the characteristics of the course of aHUS in 172 children depending on their genetic profile performed in Jan. 2012-Feb. 2022. The sporadic form of aHUS was diagnosed after exclusion of the other forms of thrombotic microangiopathy (TMA), the familial form (in cases with the familial records), the acquired (CFH-Ab HUS) in cases with AB increase to factor H. AutoAb against factor H was determined by enzyme-linked immunosorbent assay (ELISA-VIDITEST anti-complement factor H). The search for mutations (n=167) was carried out using Next-generation Sequencing (NGS) and Sanger sequencing methods. Results: the sporadic form of aHUS was diagnosed in 96.9% of cases, familial in 3.1% and CFH-Ab HUS in 23.8%. The genetic nature of aHUS was confirmed in 53.4% of cases. Pathogenic mutations were detected in 8.6% of cases, probably pathogenic in 42.8% and those with unclear clinical significance in 46.8%. The complement genes mutations were detected in 88.5% of cases and mutations of genes not related to the complement system (ADAMTS13, DGKE, INF2) in 11.5%. The most frequently identified mutations were in the CFH (17.1%), C3 (12.9%) and CD46 (12.9%) genes and less frequently in CFI (7.1%), THBD (5.7%), CFHR5 (5.7%) and CFB (1.4%). In children with CFH-Ab HUS, the CFHR1/CFHR3 deletion was detected in 87.8% of cases, including in 19.4% in combination with mutations of unknown clinical significance. Multiple organ failure syndrome had developed in 77.8% of cases in children with pathogenic/probably pathogenic mutations, in 85.3% in patients with mutations of unknown clinical significance, in 91.8% in patients without mutations and in 83.3% in patients with CFHR1/CFHR3 deletion. Chronic kidney disease (CKD) stages 3 to 5 in sporadic/familial aHUS, regardless of genetic profile, had counted for 14.5% and 16.7% in CFH-Ab HUS. Lethal outcome occurred in 4.3% of cases in the presence of mutations, in 4.9% in the absence of mutations and in 2.8% in cases of CFHR1/CFHR3 deletion. Relapses of aHUS prior to the Eculizumab treatment had developed more often in the presence of CFHR1/CFHR3 mutations and deletion in comparison with children without mutations (31.4% v. 13.1%, p=0.0313 and 44.4% v. 13.1%, p= 0.004). Relapse of aHUS","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"4 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141921192","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 histological features of rapidly progressive glomerulonephritis in children","authors":"P. Ananyin, A. Milovanova, T. Vashurina, O. Zrobok, Ye.S. Stolyarevich, K. Kulikov, A. Tsygin","doi":"10.24110/0031-403x-2024-103-4-37-43","DOIUrl":"https://doi.org/10.24110/0031-403x-2024-103-4-37-43","url":null,"abstract":"Rapidly progressive glomerulonephritis (RPGN) associated with antineutrophil cytoplasmic antibodies (ANCA) is complicated in children due to the severity of the disease and the lack of clear consensus on treatment. The purpose of this research was to analyze the course of RPGN and its outcomes in children depending on the morphological basis after the results of nephrobiopsy. Materials and methods used: a single-center cohort retrospective study had been carried out as medical records’ analysis of patients diagnosed with RPGN aged 1 to 18 y/o who were observed at the Nephrology Department of the Scientific Research Institute of Pediatric Nephrology and Urology with the National Medical Research Center for Children’s Health (Moscow, Russia) in 2015-2024. Renal survival was assessed for different clinical and morphological options, the Renal Risk Score was assessed then. Results: 18 (7 m/11 f) were identified of Me age of diagnosis 14.1 [9.9; 15.5] y/o. ANCA was detected in all patients: pANCA in 12 (66.7%, 95% CI 40.9-86.7) and cANCA in 6 (33.3%, 95% CI 13.3-59.0) plus a single patient had a rare combination of dual positivity for anti-GBM and MPO-ANCA. Extrarenal manifestations were described in 10 (55.6%, 95% CI 30.8-78.5). Morphological subclassification of focal segmental glomerulosclerosis was detected in 5 (31.3%, 95% CI 11-58.7), extracapillary proliferation in 8 (50%, 95% CI 24.7-75.4), sclerosing in a single patient (6.3%, 95% CI 0.2-30.2) and the mixed one in 2 cases (12.5%, 95% CI 1.6-38.4). The median follow-up period was 21.6 [12.6-35.3] months, the outcome of stage 5 chronic kidney disease (CKD) was observed in 4, overall renal survival after 12 months was 94.4% (95% CI 84.4-100.0) and 86.6% (95% CI 70.6-100.0) after 36 months. An increase in the relative risk of achieving stage 5 CKD in patients with extrarenal (general) manifestations was detected as 1.67 times (95% CI 1.01-2.77) and 10.5 times (95% CI 1.46-75.42) in those receiving dialysis. Differences in the median glomerular filtration rate at onset were revealed in patients with extrarenal manifestations and isolated glomerulonephritis (p=0.004). Conclusion: when choosing treatment tactics for RPGN in children and assessing renal prognosis, it is necessary to take into consideration the results of a morphological study and the degree of damage to the renal tissue.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"6 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141921329","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}