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Russian Pediatric Journal

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Vol 28, No 1 (2025)
https://doi.org/10.46563/1560-9561-2025-28-1

ORIGINAL ARTICLES

4-12 146
Abstract

Introduction. Nephropathic cystinosis (NC) is an extremely rare hereditary disease characterized by the intralysosomal accumulation of cystine crystals caused by mutations in the CTNS gene. NC is the most common cause of Fanconi syndrome in children, which has a poor prognosis without continued pathogenetic therapy, mainly affecting renal function.

The aim of the work is to determine the features of the clinical course of NC, the experience of diagnosis and treatment in a multidisciplinary hospital of the federal center.

Materials and methods. The retrospective study included 37 NC patients (19 girls, 18 boys) for the period from 2008 to 2024.

Results. Manifestations of Fanconi syndrome were noted in all patients; the age of verification of symptoms ranged from 2 to 119 months, the median was 7 [6; 14] months. At the time of diagnosis at the age 8 to 294 months, median 27 [19; 71] months, in 17 (46%) children documented a decrease in eGFR < 60 ml/min/1.73 m2. An extended deletion of 57 thousand pairs of nucleotides was detected in 17 (46%) patients. Renal replacement therapy was initiated in 24 (65%) patients, median age 8.7 [7.7; 11.9] years. Kidney transplantation was performed in 21 patients, median age was 10.2 years (8.8; 13.0), there were no cases of loss of allograft. Pathogenetic cysteamine therapy was initiated in 36 (97.3%) children, range 8 to 174 months, median 33 [23; 82] months, was achieved a decrease the concentration of cystine leukocytes and a decrease in the frequency of extrarenal complications. There were a significant slowdown in the rate of decrease in renal function to CKD stage 3 and stage 5 with early initiation of cysteamine bitatrate and subsequent adherence to therapy.

Conclusion. Nephropathic cystinosis is an important problem in Pediatrics due to the extremely late diagnosis and lack of alertness of primary care specialists. Early initiation of supportive and pathogenetic therapy allows improving the condition and development of patients, as well as slowdown the rate of decrease in renal function and extrarenal damage.

Contribution:
Maltseva V.V., Savostyanov K.V., Tsygin A.N. — concept and design of the study;
Maltseva V.V., Ananin P.V., Vashurina T.V., Zrobok O.I., Mazanova N.N., Milovanova A.M., Nikolaeva R.A., Tsygina E.N., Petrachkova M.S. — data collection and processing;
Maltseva V.V. — writing the text and statistical processing of the data;
Pushkov A.A., Tsygin A.N. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: December 27, 2024
Accepted: January 30, 2025
Published: February 28, 2025

 

13-22 99
Abstract

Introduction. The microbial biodiversity of the respiratory tract in children with cystic fibrosis (CF) in various subjects of the North Caucasus Federal District (NCFD) has not yet been sufficiently described. In the NCFD children with CF were previously shown to have specific clinical manifestations of the disease and changes in the frequencies of pathogenic variants of the CFTR gene. In this regard, the topic of the work is relevant.

The aim of the study. To detect changes in the microbiota composition of the respiratory tract in CF children in various subjects of the NCFD.

Materials and methods. There were examined one hundred 48 CF children, who underwent a study of the microbiota of the respiratory tract. The patients were divided into 2 groups: by subject (children of the Chechen, Karachay-Cherkess, Ingush, Kabardino-Balkarian, North Ossetia — Alania and Dagestan Republics) and by age (1 — infants under 12 months, 2 — 1–3 years, 3 — 3–7 years, 4 — 7–17 years).

Results. For the first time, changes in the quantitative and qualitative composition of the respiratory tract microbiota in CF children in various subjects of the NCFD are presented. The quantitative composition of the microbiota of the respiratory tract of CF patients is represented by 45 species of bacteria and mold from the department of ascomycetes. Gram-negative microorganisms (86.3%) occupied a significant place in the composition of the microbiota of the respiratory tract in CF patients. The proportion of Gram-positive bacteria was 13.6%. The leading microbiota in the respiratory tract in CF patients in various subjects of the NCFD were: P. aeruginosa (68.9%), S. aureus (66.8%), of which 37.1% are MRSA, H. influenzae (51.3%), Moraxella catarrhalis and K. pneumoniae (30.4%), respectively. The biodiversity of the microbiota of the respiratory tract in CF children in various subjects of the NCFD differs from other regions of the Russian Federation in the high content of P. aeruginosa and H. influenzae, they are not characterized by the isolation of Achromobacter xylosoxidans. For the first time, a unique frequency distribution of the CFTR gene alleles was revealed in children with CF in various subjects of the NCFD. The most common pathogenic variants of the CFTR gene among all subjects of the NCFD were p.Y515 (150 alleles/51.9%), p.W1282 (48 alleles/16.6%), and p.E92K (26 alleles/8.9%). While the share of these pathogenic variants in the Russian Federation was 2.48%, 1.73%, and 3.67%, respectively.

Conclusion. The established patterns of biodiversity of the microbiota of the respiratory tract in CF children are necessary to optimize their treatment and prevent exacerbations of the disease. Given the high content of hemophilic bacillus in the microbiota in CF children, special attention should be paid to vaccination of children against hemophilic infection type B.

Contribution:
Simonova O.I., Lazareva A.V., Savostyanov K.V. — concept and design of the work;
Lazareva A.V., Simonov M.V., Gorinova Yu.C. — collection and processing of the material, writing the text;
Pushkov A.A., Savostyanov K.V. — conducting molecular genetic research;
Simonova O.I., Pushkov A.A., Smirnov I.E. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: December 26, 2024
Accepted: January 30, 2025
Published: February 28, 2025

23-32 87
Abstract

Introduction. Immune memory is a tool of the adaptive immune system that allows it responding quickly and effectively to repeated contact with an antigen. The role of memory cell populations in the recurrence and progression of immune-dependent diseases is shown.

Aim. To determine the trend in memory T-cell populations depending on the effectiveness of biological therapy (BT) in children with inflammatory bowel disease (IBD), multiple sclerosis (MS) and psoriasis (PS).

Materials and methods. Four hundred fifty children with immunosuppressive diseases (ISD) were examined during different periods of administration of biological drugs: IBD — 162 children (infliximab /adalimumab), MS — 116 children (interferon β1α — IFNβ1α), PS — 172 children (adalimumab). The effectiveness of BT was assessed using clinical activity indices and functional methods. Lymphocyte immunophenotyping was performed by flow cytometry to determine populations of CD4+ and CD8+ memory T-cell: central (TCM), effector (TEM), and terminally differentiated (TEMRA). Statistical data processing was carried out in the Statistica 16.0 program, using the Mann–Whitney U-test, Spearman correlation analysis (p < 0.05). In the SPSS version 25 software, ROC analysis was performed in the efficiency–inefficiency separation model.

Results. In all forms of pathology, changes in the content of memory T-cells have been established depending on the activity of inflammation. In IBD and PS patients, with an increase in the indices of disease activity, a decrease in the levels of CD4+ naive T-cells (TNAIVE) and an increase of TCM were detected. In MS patients with active foci, an MRI scan showed a decrease in the percentage of naive CD8+ T-cells (TcytNAIVE) and an increase in the population of CD8+ TEM. The content of TNAIVE populations decreased with age, and memory T-cells increased in patients with all the studied forms of pathology. In patients with BT efficacy, a high content of TNAIVE populations and a low content of TCM were found compared with the levels in patients with insufficient BT efficacy. Thresholds have been determined for IBD, MS, and PS patients, which make it possible to predict the effectiveness of BT. An increase in the levels of TNAIVE and TcytNAIVE makes it possible to predict the presence of a BT effect, an increase in the levels of TCM, CD4+ TEM, and CD8+ TEMRA make it possible to predict the absence or insufficient effect of BT.

Conclusion. The activity of the inflammatory process is reflected in the differentiation of populations of CD4+ and CD8+ memory T cells. With the effectiveness of BT, the number of TNAIVE increases with a decrease in the number of TCM and TEM in patients with immune-dependent diseases, regardless of the form of pathology and the drug used. Threshold values for memory T-cells populations make it possible to predict the effectiveness of BT.

Contribution:
Radygina T.V., Petrichuk S.V. — research concept and design of the study;
Radygina T.V., Petrichuk S.V., Kuptsova D.G., Kurbatova O.V., Potapov A.S., Murashkin N.N., Abdullaeva L.M., Freydlin E.V., Kuzenkova L.M. — collection and processing of material;
Radygina T.V. — writing the text;
Fisenko A.P., Semikina E.L. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: December 17, 2024
Accepted: January 30, 2025
Published: February 28, 2025

33-40 155
Abstract

Background. Crohn’s disease in children is often accompanied by impaired nutritional status, including severe malnutrition. Elimination diets are often unjustified and lead to deterioration of the patient’s condition.

The aim of the study: to determine the trend in the nutritional status against the background of optimizing the diet in children with Crohn’s disease (CD).

Materials and methods. A comprehensive study of nutritional status was carried out including parameters of bone mineral density in 191 children 7–17 years-old with a confirmed diagnosis of CD. 54 patients were examined dynamically before and after the prescribing of a balanced sparing diet developed by us with or without the addition of specialized products for enteral nutrition (groups 1 and 2, respectively).

Results. More than half (52,9%) of the children had malnutrition, with 49 (25,7%) patients having moderate to severe malnutrition, accompanied by loss of lean mass, skeletal muscle mass, and bone mineral density. The widespread use of unbalanced diets with insufficient caloric content, low levels of protein, calcium- and iron-containing foods, and dietary fiber was revealed. Against the background of a comprehensive approach with the inclusion of dietary support developed by us, significant positive trends were noted (p < 0,001) as BMI increasing against the background of an increase in lean and skeletal muscle mass of the body without an increase in the content of adipose tissue (p > 0,05). A significant decrease in the disease activity indices — PCDAI and SES-CD was noted.

Conclusion. Prescribing unbalanced restrictive diets is unsafe. A comprehensive approach to correcting the nutritional status in patients with a sparing balanced diet against the background of immunosuppressive therapy has proven its effectiveness not only in gaining weight, but also in improving the component composition of the body, but also in monitoring disease activity.

Contribution:
Zenkova K.I., Skvortsova V.A., Potapov A.S., Borovik T.E. — concept and design of the study;
Zenkova K.I., Skvortsova V.A., Sokolov I., Anushenko A.O., Krasnovidova A.E., Chabieva M.A., Usoltseva O.V. — collection and processing of the material;
Zenkova K.I., Krasnovidova A.E. — statistical processing of the material;
Zenkova K.I., Skvortsova V.A., Parakhina D.V. — writing the text;
Potapov A.S., Borovik T.E., Bushueva T.V., Sokolov I., Zvonkova N.G. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: January 10, 2025
Accepted: January 30, 2025
Published: February 28, 2025

41-46 90
Abstract

Introduction. The chronic course of autoimmune hepatitis requires long-term immunosuppressive therapy, which can lead to side effects such as impairement of bone mineral density (BMD). Currently, there are no data assessing bone mineralization in children with autoimmune hepatitis.

Aim. To determine the bone mineral density by densitometry and bone remodelling biochemical markers in children with autoimmune hepatitis.

Materials and methods. The study included 41 child with autoimmune hepatitis. 18 patients were diagnosed for the first time and received no treatment before admission, 15 children took glucocorticosteroids up to 6 months and 8 patients received them for 6 months or more. The study required clinical: age and sex of patients, duration both of the disease and treatment, body mass index, laboratory (ALT, AST, total immunoglobulin G, osteocalcin, procollagen type 1 N-terminal propeptide (P1NP), βCrossLaps, calcium, phosphorus, parathormone, vitamin D), instrumental examination (lumbar radiodensitometry, liver elastography).

Results. Children with autoimmune hepatitis at the age of 16 years and older had lower densitometry Z-score (p = 0.015). There was no statistically significant difference between bone mineral density Z-score and the treatment duration. BMD Z-score was established to correlate with P1NP in blood serum (p = 0.035) and osteocalcin (p = 0.026).

Conclusion. Autoimmune hepatitis is a chronic liver disease, associated with the risk for bone density mineral disorders, including in children. This requires timely assessment of one remodelling state, as well as calcium and vitamin D prescription for concomitant treatment.

Contribution:
Parakhina D.V., Movsisyan G.B., Potapov A.S. — research concept and design of the study;
Parakhina D.V., Movsisyan G.B., Semikina E.L. — collection and processing of material;
Parakhina D.V., Movsisyan G.B. — writing the text;
Fisenko A.P. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study was conducted within the framework of the state assignment of the Ministry of Health of the Russian Federation, No. 122040800225-4.

Conflict of interest. The authors declare no conflict of interest.

Received: December 20, 2024
Accepted: January 30, 2025
Published: February 28, 2025

47-53 99
Abstract

Relevance. The prevalence of childhood obesity and its complications determine the need to analyze the various mechanisms of formation of these forms of pathology, including disorders that are realized in chronic nonspecific inflammation in obesity.

The aim of the study was to determine changes in the levels of inflammatory biomarkers in obese children and their association with complications of the disease.

Materials and methods. There were examined two hundred eleven school-age children, including 188 patients with constitutionally exogenous obesity and 23 conditionally healthy children who made up the control group. The average age of the children was 14 years. Anthropometric parameters were determined in all children, body mass index (BMI) was calculated using the Ketle formula, the number of leukocytes, levels of C-reactive protein and erythrocyte sedimentation rate. The blood (interleukin (IL)-1β, IL-6, IL-10, IL-18) and tumor necrosis factor-α (TNFα) in the blood was determined by enzyme immunoassay.

Results. Obese patients with metabolic complications of the disease showed significantly increased blood levels of leukocytes, C-reactive protein, and IL-6 when compared with children without complications. Correlations have been established between the levels of inflammatory biomarkers and various complications of obesity. High levels of inflammatory markers in children with complications of obesity indicate the formation of obesity-associated chronic nonspecific inflammation in the early stages of the disease.

Conclusion. The established patterns can be used as predictors of the unfavourable course of obesity in children and early markers of the risk of complications.

Contribution:
Skvortsova O.V., Migacheva N.B. — concept and design of the study;
Skvortsova O.V., Mikhaylova E.G. — data collection and processing;
Skvortsova O.V. — statistical processing of the data;
Skvortsova O.V., Migacheva N.B. — writing the text;
Migacheva N.B., Mikhaylova E.G. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: January 16, 2025
Accepted: January 30, 2025
Published: February 28, 2025

54-60 89
Abstract

Introduction. Multiple hereditary exostoses (MHE) is a disease that progresses as a child grows, which leads to severe deformities of the skeleton. In 30–60% of MHE cases, the bones of the forearms are affected with the development of radius deformity. In addition to resection of bone and cartilage formations, surgical treatment may include various types of osteotomies using submersible metal fixators and external fixation devices. The development of guided-growth technology dictates the need to expand the scope of minimally invasive surgery. The possibilities of using this technology for deformities of the upper extremities have not yet been sufficiently studied.

Objective. To evaluate the effectiveness of the method of controlled bone growth in the surgical treatment of ulnar deformity against the background of multiple hereditary exostoses.

Materials and methods. In the period from 2021–2024, thirty three 5 to 17 years children (55 segments/forearms) were hospitalized at the National Medical Research Center for Children’s Health. The study group consisted of 13 children (15 segments) diagnosed with: Distal radius deformiry on the background of multiple hereditary exostoses.  A control group of 20 (40 segments) children were diagnosed with juvenile idiopathic arthritis. Patients from the study group underwent surgical treatment of radius deformity using temporary arrest of the growth zone (hemiepiphysiodesis) of the radius. All the studied patients were assessed the angle of the ulnar tilt (UT) and of the lunate subsidence (LS) on X-rays of the forearm in direct projection, patients from the study group were radiographed in the preoperative period and 12–20 months after surgery. The statistical analysis of the studied parameters is based on the search for statistical differences in groups and was performed in the Stattech program.

Results. The preoperative value of the elbow angle UT was 35° (33.40), after surgical treatment, UT was 27° (24.32) at p = 0.0002. The value of the LS before surgery was 8.73 ± 3.33 mm, after surgical correction LS was 7.48 ± 3.36 mm at p = 0.005. The achieved level of correction of UT and LS in the study group did not statistically differ from that of the control group, which indicates that the target values were achieved. The average angle of correction of the UT parameter was 8°/year, the trend in postoperative LS values was 1.25 mm/year.

Conclusion. The technology of guided-growth effectively corrects the axis of the radius deformity in MHE children during growth. The timely application of this technology makes it possible to prevent the development of severe deformity of the radius and to abandon the performance of corrective osteotomies in the future.

Contribution:
Petelguzov A.A., Zubkov P.A. — concept and design of the study, collection and processing of the material;
Zubkov P.A., Kavkovskaya Ya.I. — statistical processing of the material;
Petelguzov A.A., Zubkov P.A., Zherdev K.V. — writing the text;
Zherdev K.V., Butenko A.S., Chelpachenko O.B., Pimbursky I.P. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: November 11, 2024
Accepted: January 30, 2025
Published: February 28, 2025

 

61-66 79
Abstract

Introduction. The article presents a retrospective single-center, observational study devoted to the analysis of surgical interventions in children in need of palliative care and who were in the Morozov Children’s Clinical Hospital for the period from 2015 to 2022.

Purpose. To assess the range and indications for surgical interventions in children when providing primary medical care in a multidisciplinary children’s clinic.

Materials and methods. The analysis of 2,081 case histories, 1,058 cases of hospitalization in 943 patients, who underwent 1,118 surgical interventions, was carried out. 175 patients (18.5%) underwent multiple surgeries.

Results. The largest group consisted of patients with diseases of the nervous system (40%), malignant neoplasms (30%) and congenital anomalies (21%). Soft tissue surgeries prevailed in the structure of surgical interventions (25%); gastrostomy, tracheostomy, CSF bypass surgery 17% (51%) each.

Conclusion. Surgical interventions in palliative patients are feasible, the spectrum depends on nosology, and are aimed mainly at improving the quality of life.

Contribution:
Tenovskaya N.V. — research concept and design of the study;
Tenovskaya N.V., Tenovskaya T.A. — collection and processing of material;
Kumirova E.V. — statistical processing;
Tenovskaya N.V., Kumirova E.V., Tenovskaya T.A. — writing the text;
Sharkov S.M., Gorev V.V. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: January 14, 2025
Accepted: January 30, 2025
Published: February 28, 2025

REVIEWS

67-73 84
Abstract

Over the past half century, there has been a steady gain in new cases of childhood obesity, which has reached the scale of a non-communicable epidemic, especially in developed countries. All reasons for this trend are being discussed over the world. Due to the development of comorbid pathology leading to disability, and increase in premature death rate, the medical community faces many challenges in the prevention, early diagnosis, and treatment of obesity.

The aim of the review is to identify evidence-based approaches to the prevention and treatment of obesity in children.

Literature was searched in the following databases: PubMed, Embase, Cochrane Library, Google, RSCI, search depth of 10 years. Overweight and obesity are registered in 25.3% of cases, more often in  8 to 19 years children. To combat overweight and obesity in children measures are developed taking into account genetic, biological, psychological, behavioral, interpersonal factors, as well as environmental influences. There are described conceptual models explaining the mechanisms of overweight and obesity formation in children, which are taken into account when making recommendations for the introduction of healthy habits and a healthy lifestyle: biopsychosocial, theory of ecological systems, the “6 C” model, cascade. These models can be used to develop effective personalized programs for for weight gain prevention.

Conclusion. To combat the epidemic of childhood obesity, it is necessary to apply an integrated approach, including prevention, early diagnosis and treatment, as well as the introduction of programs aimed at changing the lifestyle in children and their families. Reducing morbidity and preventing disability requires action at all levels, from families to government health programs.

Contribution:
Fisenko A.P., Makarova S.G.
— research concept and design of the study;
Dubovitskaya T.A., Pronina I.Yu., Lebedeva A.M., Gordeeva I.G. collection and processing of material;
Makarova S.G. — writing the text;
Fisenko A.P. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: January 15, 2025
Accepted: January 30, 2025
Published: February 28, 2025

74-78 90
Abstract

The review presents achievements and prospects in the prevention of food allergies (FA). The incidence of FA has increased worldwide, and this has determined the need to change approaches to the primary prevention of FA, which for a long time relied on elimination strategies in the diet of not only children, but also pregnant and lactating women.

The aim of the review is to determine the advantages of early introduction of highly allergenic foods as complementary foods for FA prevention.

Literature was searched in the following databases: PubMed, Embase, Cochrane Library, Google. For children at high risk of developing FA, there is convincing evidence of the benefits of early administration of allergenic foods, in particular peanuts and eggs. It is believed that in such cases, not only should these products not be delayed, but they should be administered around the age of 4–6 months to minimize the risk of developing FA. All current guidelines recommend this approach regardless of the risk of developing FA.

Conclusion. Taking into account the trends towards the early introduction of allergenic products as a prevention of FA, it can be argued that a significant transition has been made from an elimination strategy to a strategy for the formation of tolerance to food allergens.

Contribution:
Larkova I.A. — research concept and design of the study, collection and processing of the material, writing the text;
Revyakina V.A. — science editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. This work was carried out within the framework of the implementation of the topic of the state assignment of the Federal Research Center of Nutrition and Biotechnology No. FGMF-2023-0008 «Development of medical technologies for the diagnosis and correction of malnutrition in patients with non-infection diseases».

Conflict of interest. The authors declare no conflict of interest.

Received: January 16, 2025
Accepted: January 30, 2025
Published: February 28, 2025

79-84 116
Abstract

Cyberbullying (electronic bullying) is a separate area of bullying among teenagers, defined as deliberate aggressive actions systematically carried out by a group or a specific person using electronic forms of interaction and directed against a victim who cannot defend himself.

The aim of the study is to determine the prevalence of cyberbullying among adolescents and assess the impact of bullying on children’s behaviour and health.

The following databases were used in the review: RSCI, PubMed, Google Scholar. The prevalence and causes, diagnosis, clinical manifestations, and prevention of cyberbullying when using electronic devices with Internet access have been established. Destructive behaviour in cyberspace is associated with excessive self-disclosure on social networks and the publication of provocative content, substance use, low levels of friendly support, adverse family environment, and virtual violence. The relationship between cyberbullying by peers and childhood loneliness, depression, aggression, suicidal tendencies, lack of social skills, and impulsive behaviour of adolescents has been established.

Contribution:
Ganuzin V.M. — concept and design of the study; collection, preparation of material and writing the text;
Maskova G.S. — preparation of material and writing the text;
Mozzhukhina L.I. — editing the text;
Shubina E.V. — collection and processing of material.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: December 20, 2024
Accepted: January 30, 2025
Published: February 28, 2025

CLINICAL CASE

85-90 88
Abstract

The aim of the work: to present a clinical description of cases of epilepsy associated with a chromosomal mutation — deletion of chromosome 14.

Materials and methods. The authors’ own observations relate to neurological pathology, the leading manifestation of which was resistant epilepsy.

Results. The rarity of chromosome 14 deletion, the presence of complications, the high cost of invasive diagnosis, and the variability of the phenotype, including the absence of severe congenital malformations in children with microdeletions, determine delayed diagnosis at the prenatal stage with subsequent difficulties in treatment, medical, and psychosocial rehabilitation of such patients. In case of refractory epilepsy and delayed development of patients in infancy, characteristic of chromosomal microdeletions, genetic counselling and examination of patients should be performed to search for chromosomal pathology.

Conclusion. Increasing the awareness of doctors about these forms of pathology will contribute to timely diagnosis and treatment.

Contribution:
Novikova L.B., Faizullina N.M., Akopyan A.P., Ziultsle K.M. — study concept and design;
Faizullina N.M., Ziultsle K.M. — collection and treatment of materials, statistics;
Novikova L.B., Faizullina N.M., Akopyan A.P., Ziultsle K.M. — writing the text;
Novikova L.B., Akopyan A.P. — editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: December 10, 2024
Accepted: January 30, 2025
Published: February 28, 2025



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ISSN 1560-9561 (Print)
ISSN 2413-2918 (Online)