Background. Rett syndrome (RS) is a monogenic X-linked hereditary disease caused by pathogenic variants of the MECP2 gene, characterized by regression of psychomotor development, a progressive course, and multisystem manifestations. This condition is associated with high mortality. Despite the considerable amount of accumulated data on the spectrum of MECP2 genetic variants, the pathogenetic mechanisms of disease progression that determine the clinical and laboratory manifestations of RS remain insufficiently studied. Manifestations of hemorrhagic syndrome (epistaxis, ecchymoses) have been described in girls with RS. It is suggested that a prolonged inflammatory process may occur in this category of patients, contributing to coagulation disorders. In addition, there is evidence of the influence of pathogenic MECP2 gene variants on the coagulation system. An additional risk factor is antiepileptic drugs, which can affect both the platelet (reduction of platelet aggregation when interacting with GPIIb/IIIa receptors) and plasma components of hemostasis (decreased fibrinogen levels), potentially increasing the tendency toward hemorrhagic manifestations. Thus, the combination of these factors creates prerequisites for an imbalance in the hemostasis system in patients with RS. In this regard, the study of hemostasis features in this orphan pathology appears relevant. The aim of the study — to assess the direction of changes in the hemostasis system in girls with RS. Methods . The main group included 52 girls with a verified diagnosis of RS, followed up at the Pediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery from January 2022 to December 2025. The control group consisted of 69 conditionally healthy girls. All children underwent a comprehensive examination, including physical examination, complete blood count, and coagulogram. Results . The groups were comparable in sex and age. In girls with RS, a statistically significant decrease in the median activated partial thromboplastin time was revealed: 31.15 s (28.9; 33.5) compared with the control group (p = 0.000). At the same time, a statistically significant increase in the plasminogen level was noted: 106% (96; 112), p = 0.004. According to the complete blood count, statistically significant differences from the control group girls were recorded in patients with RS for the following parameters: white blood cell count — 7.84 × 10⁹/L (6.35; 9.02), p < 0.000; lymphocyte count — 3.15 × 10⁹/L (2.62; 3.98), p = 0.003; platelet-to-lymphocyte ratio (PLR) — 90.81 (76.97; 111.58), p = 0.016. Conclusion. The obtained results indicate an association of RS with changes in the plasma component of hemostasis and activation of the fibrinolytic system. A possible pathogenetic relationship between impaired MECP2 protein function and the development of systemic manifestations, including hemostasis disorders, in patients with RS is suggested.
Hepatic forms of glycogen storage disease (GSD) are a group of inherited metabolic disorders where patients require lifetime nutritional treatment, regular intake of raw cornstarch, and strict self-management. Social barriers, insufficient medical support, and psychological factors cause low compliance to treatment, and lead to disease progression, metabolic decompensation, and decrease in patients’ quality of life. This article covers key aspects of GSD hepatic forms pathogenesis, their major clinical signs and laboratory markers, as well as modern management approaches focused on compliance issues. Special attention is given to the analysis of low compliance factors and its consequences. Practical social and medical solutions were proposed: telemedicine platforms, educational programs for families, interdisciplinary monitoring algorithms, and measures to increase the availability of raw cornstarch with prolonged action. The importance of including psychological and pedagogical support in clinical guidelines and standards of medical care to optimize the prognosis and social adaptation of children with GSD was emphasized.
Background . Juvenile scleroderma (JS) is a rare systemic autoimmune connective tissue disease with onset in childhood, characterized by involvement of the skin, musculoskeletal system and, in the systemic form, internal organs. The severity of inflammation, fibrotic changes and functional limitations leads to a decrease in quality of life (QoL) in a significant proportion of patients. The aim of the study was to assess QoL in children with JS. Materials and methods . A cross-sectional study of 67 children was conducted at the V.P. Polyakov Samara Regional Clinical Cardiological Dispensary; the main group included children with JS (n = 51). The control group consisted of 16 children classified as health group 2 with a diagnosis of autonomic dystonia syndrome (ADS). QoL was assessed using the PedsQL 4.0 (Pediatric Quality of Life Inventory) questionnaire, which measures physical, emotional, social and school (role) functioning; the results were presented as median and interquartile range. Results . Statistically significant differences in the total score were revealed both between children with ADS and patients with JS (p < 0.001 and p = 0.012, respectively), and between children with localized and systemic forms of the disease (p = 0.011). Statistically significant differences were noted in physical, emotional, social, role and psychosocial functioning: in all QoL domains, the scores in children with autonomic dystonia syndrome were higher than in patients with juvenile scleroderma. Conclusion . QoL indicators in children with JS indicate an unfavorable impact of the disease on the physical and especially on the emotional and role aspects of life, with a marked decrease in psychosocial functioning. This emphasizes the need for regular QoL assessment in pediatric practice for a more complete understanding of the clinical picture in a particular patient and differentiated planning of medical, psychological and educational care depending on the form of the disease.
The leading method for correcting water and electrolyte imbalance in children with grade I–II dehydration is oral rehydration therapy (ORT). The aim of the study was to minimize the volume of infusion therapy (IT) in children with acute intestinal infections (AII) in hospital settings. Materials and Methods . The study included 899 children with AII. The main group (MG, n = 442) consisted of patients managed by the authors; the comparison group (CG, n = 457) included children observed by other physicians of the same department. In both groups, oral rehydration with glucose-saline solutions was performed for grade I–II dehydration: in the MG — with a hypo-osmolar solution (245 mOsm/L), in the CG — with a hyperosmolar solution (282 mOsm/L). When ORT was ineffective, IT was prescribed: in the MG — isotonic Sterofundin solution, or Ringer lactate or 0.9% sodium chloride solution if Sterofundin was unavailable; in the CG — glucose-saline solutions (Sterofundin G-5, Normofundin G-5). Results . Every third case of AII in both groups was attributable to invasive intestinal infections: 31.0% (137/442) in the MG and 31.9% (146/457) in the CG. Patients with grade I–II dehydration predominated in both groups. In children with grade I dehydration in the MG, IT was completely avoided (100% of cases); in grade II dehydration, IT was avoided in 20% of cases. In the CG, every second patient with grade I dehydration received IT, and every fifth patient with grade II dehydration received IT. The duration of dehydration resolution and the severity of the condition, assessed by the number of days, did not differ significantly between the groups. Conclusion. Fostering maternal adherence to ORT made it possible to reduce the frequency of IT use in children with AII by 3 times.
Background . Individual variability in the human population is determined by the polymorphism of genetic material and the influence of environmental factors. Pathological changes in hereditary structures, such as chromosomal aberrations or mutations in genes encoding key proteins, can induce disturbances in the morphofunctional organization of the body. A significant portion of hereditary pathology is caused by enzyme defects leading to dysmetabolism. The phenotypic manifestations of such diseases are complex, including both visible anomalies and clinically latent dysfunctions of internal organs. One such disorder is congenital adrenal hyperplasia (CAH), also known as adrenogenital syndrome and congenital adrenal cortex hyperplasia. CAH is a rare autosomal recessive disorder of steroidogenesis caused by hereditary enzyme deficiency. The pathogenesis of the disease consists in reduced cortisol synthesis, which, through negative feedback, causes chronic hypersecretion of adrenocorticotropic hormone (ACTH). Persistent ACTH stimulation leads to compensatory adrenal hyperplasia and excessive accumulation of precursors shunted into the androgen synthesis pathway. Case Report . We present our own clinical observation of a child with the salt-wasting form of CAH accompanied by virilization of the external genitalia. The birth of a child with atypical external genitalia (intersex variation), associated with sex uncertainty, typically becomes a serious psychological stress for the family. The need for lifelong hormone replacement therapy and the risk of acute life-threatening conditions (adrenal crises) create persistent anxiety in the parents of patients. Conclusion . Educational work and psychological support for the parents of patients should become an important therapeutic aspect contributing to the improvement of the child’s quality of life and increasing adherence to treatment.
