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

{"title":"Hereditary forms of prion disease in pediatric practice: bibliographic review and series of clinical cases","authors":"A.E. Voskanyan, N. Semenova, A. Golovteev, A. A. Zhmurova-Kriventsova, O.N. Titova, A. Stepanova, O. Ismagilova, O. Shchagina, S. V. Dumova, O. Chugunova","doi":"10.24110/0031-403x-2023-102-6-27-35","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-27-35","url":null,"abstract":"As for now, there is very limited and surely insufficient scientific data published Worldwide on the manifestation of hereditary forms of prion disease in childhood. Authors provide brief overview of PRNP-associated prion diseases and the description of their own two clinical cases of this disease with manifestation in childhood. Both of the observed patients had many similar clinical manifestations at the onset of the disease at the age of 15 to 16 y/o, such as: predominance of neuropsychiatric symptoms at the onset, rapid progression of the disease, early development of dementia and the lethal outcome within 1 to 1.5 years. Genotype that had been identified by the results of a molecular genetic study was also similar in both patients: the repeatedly described mutation D178N in combination with the M129M polymorphism in the PRNP gene. Prion disease in all cases initially occurred under the guise of mental disorders, making it difficult to suspect a diagnosis at an early stage. Considering the extreme rarity of the manifestation of hereditary forms of prion disease in childhood, the Article is drawing attention to the current problematics connected with low alertness and delayed diagnosis of this pathology in pediatric practice.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"134 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177557","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":"Glycogen disease type IX in children: clinical observations","authors":"E.I. Kashirskaia, E.R. Shvechikhina, I.V. Soprunova, M.H. Bydjieva","doi":"10.24110/0031-403x-2023-102-6-170-175","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-170-175","url":null,"abstract":"Orphan diseases are of increasing scientific and practical interest due to the difficulties of diagnosis which in its turn is caused by their rare occurrence and, accordingly, delayed actions aimed at improving the patient’s quality of life and in some situations the impossibility of preserving it. The clinical observations presented in this Article demonstrate emerging problem: many diseases have similar symptoms, and correct vision and interpretation of these symptoms and syndromes require time and specific diagnostic methods. Analyses of the observed clinical situations are useful from the perspective of medical education and alertness to rare genetic diseases. The Article presents clinical observations of a glycogen disease type IX case in siblings, of a familiar and hereditary nature. For the first time, hepatomegaly and increased transaminase levels were accidentally detected in an older boy at the age of 2 years old during an outpatient check-up. As a result of a thorough long-term examination of the child, a number of diseases accompanied by liver damage were excluded and a hereditary metabolic pathology was suggested. Molecular genetic research made it possible to establish a diagnosis by identifying a genetic defect when the child was 4 years and 3 months old. Similar complaints and clinical manifestations in the younger brother of the described patient prompted the disease, as a result of which an identical gene mutation was discovered. The study of the genotype of the children's mother made it possible to confirm both the familiar and the hereditary nature of transmission of the disease from a clinically healthy carrier-mother to her sons. The clinical observations of glycogen disease, type IX, presented in the Article attract attention due to the non-obviousness of the clinical diagnosis when detected in siblings. Timely examination and diagnostic research made it possible to verify the diagnosis and develop a rational diet that contributes to the achievement of the main life characteristics - its quality and expectancy. Thus, a prognostically favorable prognosis was ensured. Conclusion: a genetic defect may be hidden behind the nonspecific manifestations of almost any disease. From this perspective, it becomes obvious that it is necessary to inform physicians of all specialties, especially within the primary care healthcare system, about the possibility of medical genetic counseling, the increasing availability of molecular genetic examinations and biochemical tests aimed at identifying hereditary pathologies. Timely examination and treatment, early medical intervention helped changing the course of the disease in terms of minimizing symptoms and improving the quality of life, reducing the rate of progression of the pathology.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"392 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177977","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":"Tubulointerstitial nephritis and uveitis syndrome: series of clinical cases","authors":"M. Aksenova, N. Zaikova, T. Lepaeva","doi":"10.24110/0031-403x-2023-102-6-48-54","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-48-54","url":null,"abstract":"Tubulointerstitial nephritis and uveitis syndrome (TINU) is a rare autoimmune disease that develops predominantly in young people and is characterized by variable clinical manifestations and an uncertain prognosis. A single-center retrospective observational study included 3 pediatric patients (a girl and two boys) with clinically and morphologically confirmed TINU. Age of onset, clinical symptoms, gender-age-height-standardized blood pressure (BP), proteinuria (g/l), excretion level of β2-microglobulin, glucose, phosphorus in urine, blood pH and bicarbonate levels, Bedside Schwartz equation estimated glomerular filtration rate (eGFR, ml/min/1.73 m2, norm≥90 ml/min/1.73 m2), ophthalmoscopy data and the therapy were analyzed at the time of disease manifestation and during the follow-up. The duration of follow-up ranged from 3 to 7 years. The disease debuted at the age of 10 to 14 y/o with severe symptoms of intoxication, inflammatory activity, acute kidney damage (eGFR=22 to 35 ml/min/1.73 m2) and the development of Fanconi syndrome. Anterior uveitis had manifested in 1 to 5 months after the kidney disease. The TINU diagnosis was established after 6 to 9 months from the onset of the disease. All children received systemic steroid therapy coupled with the local treatment for uveitis. A significant decrease in blood creatinine levels and urine β2-microglobulin excretion with partial restoration of renal filtration function was noted by the sixth month of the therapy. All children developed chronic kidney disease (CKD) stages 2 to 3 over time. Stable remission of uveitis was achieved in 2 children after 3 to 10 months of treatment without complications; and in one patient a subacute uveitis led to the secondary changes in the cornea and decreased visual acuity. Conclusion: children with TINU have a high risk of developing CKD as a result of acute kidney disease; uveitis is characterized by a chronic course and, in the absence of remission, can lead to the development of ophthalmological complications.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"407 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177574","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":"Body composition and metabolic status in children with sarcopenic obesity","authors":"P. Okorokov, O. Vasyukova, M.P. Koltakova, E. Nagaeva","doi":"10.24110/0031-403x-2023-102-6-74-80","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-74-80","url":null,"abstract":"Sarcopenic obesity (SO) is characterized by a decrease of lean mass and increase of adipose tissue and is associated with various metabolic disorders in adults. The influence of the body composition on the metabolic profile in obese children remains unclear as yet. The purpose of the research was to assess body composition and metabolic profile in children with sarcopenic obesity Methods used: cross-sectional, single-center study was conducted in Feb. 2020-Jul. 2022 which included 116 children (55 boys, 61 girls) with simple obesity (SDS BMI 2.5 [2.2;2.7]) aged 7 to 17 y/o (average age 14.2 [12.3;15.5] y/o) divided into two groups depending on the presence of sarcopenic obesity. The group with sarcopenic obesity (\"SO+\") included 56 children (19 boys, 37 girls) with simple obesity (SDS BMI 2.5 [2.2; 2.6]). The control group (\"SO-\") consisted of 60 children (36 boys, 24 girls) with constitutionally exogenous obesity (SDS BMI 2.5 [2.2; 2.7]) without sarcopenia. Results: children with sarcopenic obesity were characterized by an increase in adipose tissue (39.1% [36.4; 41.9] vs 30.6% [27.6; 32.4]; p<0.0001), decrease in lean mass (55.6 [44.8; 63.7] vs 45.6 [39.5; 49.7] kg; p<0.0001) and skeletal muscle mass decrease (25.0 [19.2; 28.2] vs 19.4 [16.3; 22.4] kg; p<0.0001) - all compared to the \"SO-\" group. There were no statistically significant differences in the frequency of detection of impaired glucose tolerance (p=0.672), insulin resistance (p=0.871) and non-alcoholic fatty liver disease (p=0.657) in both groups. Conclusion: sarcopenic obesity in children is characterized by a reduction of lean mass and skeletal muscle mass and is not accompanied by changes in the metabolic profile. It makes difficult to stratify metabolic risks in this group of pediatric patients.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"90 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177464","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":"Respiratory system in children with Fontan circulation from the pulmonologist’s point of view","authors":"A. R. Shudueva, I. Kovalev, Y. Mizernitskiy","doi":"10.24110/0031-403x-2023-102-6-115-122","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-115-122","url":null,"abstract":"Fontan procedure is a surgical operation for patients who were born with one working heart ventricle that involves complete separation of the pulmonary and the systemic circulation systems, which significantly improves their quality of life and becomes the preferred method of palliative surgery for congenital heart defects with univentricular hemodynamics. Despite all of its advantages this procedure is associated with a number of limitations dictated by the unique type of blood circulation. The uniqueness of Fontan hemodynamics lies in the fact that it is based on passive (non-pulsatile) pulmonary blood flow, which ensures gas exchange and preload of a single (systemic) ventricle. Pulmonary blood flow is determined by central venous pressure (CVP) and pulmonary vascular resistance. Therefore, systemic ventricular preload and cardiac output depend on well-running lung function coupled with low values of pulmonary vascular resistance. Various pulmonary anatomical or pathophysiological changes may compromise the optimal Fontan circulation. This bibliographical review represents currently known data on cardiopulmonary interactions within Fontan circulation, the causes for and the variants of the pulmonary dysfunction.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"147 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178087","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":"Primary adrenal insufficiency with X-linked inheritance in children","authors":"S.R. Enikeeva, L. Sozaeva, I. Chugunov, M.A. Kareva, V. Bogdanov, N. Kalinchenko, A.A. Kolodkina, O.B. Bezlepkina, V. Peterkova","doi":"10.24110/0031-403x-2023-102-6-8-18","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-8-18","url":null,"abstract":"Primary adrenal insufficiency (PAI) is a rare pathology with a prevalence of 100 to 140 cases per one million. X-linked adrenoleukodystrophy (X-ALD) and X-linked congenital adrenal hypoplasia (X-CAH) are the leading pathologies among boys (after congenital cortical dysfunction adrenal glands) and account for 3.1% and 2.0% of all PAI, respectively. Establishing the PAI etiology is necessary to predict the course of the disease and adhere to special protocols for examining patients. The purpose of this research was to compare the PAI course in diseases with an X-linked type of inheritance. Materials and methods used: a single-center, one-stage observational comparative retrospective study was conducted in 25 male patients with genetically confirmed diagnoses of X-ALD, X-CAH and who had PAI as a component of the disease. The study was conducted at the Pediatric Endocrinology Institute with the Endocrinology Research Centre of the Ministry of Healthcare of Russia (Moscow, Russia) in 2019-2022 as well as based on the patients’ medical records that have been forwarded for a genetic search for the causes of adrenal insufficiency under the “Alfa-Endo” Charity Program for children with endocrine diseases in the same period of time. Results: X-ALD was detected in 11/25 (44%) patients, median age of manifestation was 6.2 [4.5; 7.2] y/o and 2 y/o was the earliest. A single patient with X-ALD was found to have TARTs (testicular adrenal rest tumors). X-CAH was diagnosed in the remaining 14/25 (56%) patients, median age of manifestation was 1.9 [0.04; 3.9] y/o, p=0.015. The oldest age of manifestation was 14 y/o. A single patient was found to have hypogonadotropic hypogonadism (HH) and another one had bilateral cryptorchidism. There were no statistically significant differences in symptoms, adrenocorticotropic hormone (ACTH), cortisol levels during the manifestation of PAI and doses of replacement therapy (p=0.756 for ACTH, p=0.591 for cortisol, p=0.825 for hydrocortisone and p=0.148 for fludrocortisone). Conclusion: it is necessary to exclude X-ALD and X-CAH when diagnosing PAI in boys regardless of the age of the disease manifestation. It is highly recommended to conduct a genetic study of a panel of genes responsible for the development of PAI in order to establish the PAI etiology, and regardless of the established PAI etiology it is necessary to perform an ultrasonic study of the testicles with the purpose of excluding the space-occupying formations. It is necessary to evaluate ACTH levels in patients with testicular masses for timely diagnosis of PAI and optimal treatment.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"138 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178147","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":"Varying severity of the course of the neonatal form of Marfan syndrome: genotype/phenotype correlation.","authors":"D. Gritsevskaya, V. Voinova, M.A. Shkolnikova","doi":"10.24110/0031-403x-2023-102-6-187-190","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-187-190","url":null,"abstract":"Authors’ two own clinical case observations described in the Article, whose comparison demonstrates the relationship of a more severe phenotype of the neonatal form of Marfan syndrome in a child with a missense variant and a patient with a splicing site variant. Both cases contribute to the genotype/phenotype correlations studied earlier and also indicate a greater severity of the course of the neonatal form of Marfan syndrome with missense variants.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"63 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178791","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":"Diagnosis and evaluation of the effectiveness of surgical methods for treating non-syndromic isolated craniosynostosis in children over 2 years old using the example of scaphocephaly and frontal plagiocephaly","authors":"D. A. Reshchikov, A. Lopatin, S. A. Yasonov, I.G. Vasilyev, A. Kugushev, E. V. Shchepkina","doi":"10.24110/0031-403x-2023-102-6-19-27","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-19-27","url":null,"abstract":"If craniosynostosis (CS) is not diagnosed in a timely manner, the disease develops into craniostenosis. The optimal timing for surgical correction is the first 6 to 8 months of life. However, parents of children with CS over 2 years of age often seek help. The purpose of the research was to determine the optimal diagnostic tactics, to evaluate the effectiveness of existing surgical methods for treating isolated CS in children over 2 years of age using the example of the two most common forms, sagittal and hemicoronal CS. Materials and methods used: the results of treatment of 36 pediatric patients with isolated sagittal CS and 21 with hemicoronary CS aged 2 to 7 y/o were analyzed. The control group consisted of patients with CS of the younger age group (under 2 y/o). The diagnosis used computed tomography (CT) of the skull, ophthalmoscopic examination using the RetCam device, and direct invasive monitoring of intracranial pressure. Surgical treatment included one-stage reconstructive cranioplasty, Pi-shaped craniotomy and installation of compression-distraction devices. Treatment results were assessed by calculating craniometric parameters at both pre- and postoperative stages. Statistical assessment of the effectiveness of the results of various types of surgical correction was carried out as well. Results: hypertensive changes, according to CT data, were found in all patients. Intracranial hypertension was detected in 38% of cases in children with sagittal and 33% of cases in patients with hemicoronary CS. Craniometric indices after surgical treatment were statistically better in the younger age group. Conclusion: Children over 2 years of age suffering from CS may not experience clinical manifestations of intracranial hypertension. The method of direct monitoring of intracranial pressure and assessment of the condition of the fundus allow a reliable assessment of the stage of the disease. Surgical treatment of the disease should be performed during the first year of life, which gives the best both cosmetic and functional results. In the case of treatment at a later date, the most optimal results are achieved with the use of one-stage reconstructive cranioplasty.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"56 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178920","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":"Cherubism. A bibliographical review","authors":"V. N. Kotov, N. S. Grachev, A. Lopatin, A. Kugushev, A.A. Korneev","doi":"10.24110/0031-403x-2023-102-6-81-88","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-81-88","url":null,"abstract":"This bibliographical review represents current data on a rare hereditary disease, cherubism in children and adolescents, methods of its diagnosis and staging. The causes for and possible mechanisms of development of this condition: SH3BP2 gene mutations, the role of the RANKL-OPG system and the TNF-alpha in the pathogenesis of cherubism, are considered. Clinical manifestations of the disease are described as well. Various treatment methods (medical and surgical) are presented and analyzed. Special attention is paid to the Denosumab drug as to the most effective one in the treatment of cherubism.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"226 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139177956","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":"Calcium release deficiency syndrome, a rare variant of catecholaminergic polymorphic ventricular tachycardia","authors":"I. Kovalev, V. M. Soloviov, V.V. Bereznitskaya, E. Kulbachinskaya, S. A. Termosesov, N.V. Terekhova","doi":"10.24110/0031-403x-2023-102-6-195-201","DOIUrl":"https://doi.org/10.24110/0031-403x-2023-102-6-195-201","url":null,"abstract":"Authors present a difficult-to-diagnose clinical case of cotecholaminergic polymorphic ventricular tachycardia (CPVT), a rare hereditary disease, which is characterized by mutations most often in the RYR2 gene with increased function of the ryanodine receptor, which in its turn is the main protein of calcium channels in the sarcoplasmic reticulum of cardiomyocytes. The mechanism of development of the pathology is based on late post-depolarization, which is a trigger for the occurrence of severe ventricular arrhythmias associated with a high risk of sudden cardiac death. Ventricular arrhythmias in children with CPVT can causally be reproduced using an exercise test at a low heart rate threshold. However, there have been reports of sudden cardiac death in individuals who had the loss-of-function RyR2 mutations and who have nevertheless had negative stress test results. The main clinical manifestation is syncope, the genesis of which may remain unknown for a long time. The described clinical case demonstrates the complexity of diagnosis, for which the routine cardiological examination isn’t enough. Specialists therefore have difficulties in making the correct diagnosis and determining the patient management tactics.","PeriodicalId":503254,"journal":{"name":"Pediatria. Journal named after G.N. Speransky","volume":"115 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139178462","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}