Pediatrician (St. Petersburg)

Neonatal hypoglycemia is one of the most common metabolic disorders in newborns, characterized by a high risk of developing neurological complications, including long-term ones, and, as a consequence, leading to a decrease in the quality of life of patients. As a rule, neonatal hypoglycemia is transient and is caused by the physiological characteristics of the infant’s body. The mechanism of development of transient neonatal hypoglycemia is based on transient hyperinsulinism and deficiency of alternative glucose sources in the neonatal period. In some cases, hypoglycemia can be caused by congenital metabolic disorders, enzymopathies and endocrine diseases. The frequency of neonatal hypoglycemia varies depending on the diagnostic threshold, the screening protocol used, the method of measuring blood glucose levels, and the population studied. According to the latest meta-analyses and systematic reviews, neonatal hypoglycemia is observed in 5–15% of healthy newborns and in 50% of children from the risk group. Despite the large number of clinical protocols for the management of patients with neonatal hypoglycemia, there is no single algorithm. This draft clinical guidelines for the diagnosis and treatment of neonatal hypoglycemia in children were prepared by a group of authors, leading domestic specialists in the field of neonatology, pediatrics and pediatric endocrinology. The information on the epidemiology, modern classification of neonatal hypoglycemia, methods of their diagnosis, screening and treatment, based on the principles of evidence-based medicine, is presented.

BACKGROUND: Numerous studies of the intestinal microbiome have shown its role in pathogenesis of diseases in children. However, the role of such a factor as the child’s gender is little taken into account in these studies.

AIM: The purpose of this study to identify the features of the intestinal microbiome composition of children aged 1 month, born vaginally and breastfed, depending on the child’s gender.

MATERIALS AND METHODS: the study included 103 children aged 4–6 weeks of life (group 1 — 46 girls, group 2 — 57 boys), examined at Professor Bushtyreva’s Clinic LLC from 2019 to 2020, each of whom underwent stool sampling for further sequencing of 16S rRNA.

RESULTS: Results of 16s rRNA sequencing revealed that the proportion of Erysipelatoclostridium bacteria, that predispose to the development of allergic reactions and inflammatory bowel diseases, was significantly higher in boys than in girls (12.52 and 0.2% respectively, p = 0.020). The proportion of Lachnoclostridium bacteria, high amounts of which are associated with resistance to diseases of the nervous system, also differed significantly in the groups of boys and girls (0.01 and 5.78% respectively, p = 0.046). Analysis of correlation matrices revealed that the correlation adaptometry coefficient in the group of boys was almost 4 times higher than in girls (9.5 and 2.4 respectively). Analysis of morbidity in children under one year old revealed that allergies were almost 3 times more common in boys than in girls (33.3 and 13%). Episodes of acute intestinal infections in the first year of life were registered in 6 boys and only in 1 girl (10.5 and 2.2%).

CONCLUSIONS: In boys at 1st month of life, born vaginally and breastfed, compared to girls, the proportion of bacteria of the genus Erysipelatoclostridium in the intestinal microbiome is higher, that is a risk factor for the development of allergic reactions and inflammatory bowel diseases. At the same time, the proportion of bacteria of the genus Lachnoclostridium, on the contrary, was 5 times higher in girls than in boys. The revealed differences can be used to select preventive probiotic therapy taking into account the child’s gender.

Toxocariasis is a widespread zoonotic parasitic invasion, with a fecal-oral transmission mechanism, occurring in humans exclusively in the form of tissue parasitism of the larval stage of Toxocara spp. (biological dead end) and manifests itself in the form of toxic-allergic reactions of varying severity and multiple organ lesions, that depends on the number and location of the parasites. It is more common for children due to regular contact with soil when they play in public parks and playgrounds contaminated with Toxocara eggs, that have tendency to a long-term relapsing course. There is no doubt about the existence of clinical manifest toxocariasis, which is manifested by fever, nonproductive cough, allergic rashes and hypereosinophilia in combination with a high level of antibodies to toxocariasis, however, there are still conflicting data on the impact on the general health of children who are seropositive for toxocariasis with low coefficients, in the absence of a significant increase in the level of peripheral blood eosinophils, i.e. the so-called “toxocara carrier”. It is an important task in practical healthcare to update the concept of low-intensity, because of increasing number of children with immune-related disorders, increased allergenic background, and skin diseases. Toxocara infestation. The article provides literature review of the problem of identifying, clinical and laboratory assessment of the course of toxocariasis and toxocara carriage, the impact of these conditions on the health and premorbid background of children, including children with low level of specific antibodies, and big choice of etiotropic therapy.

Asthma incidence is increasing worldwide. Despite significant advances made by world medicine in the diagnosis and treatment of asthma, half of patients receiving standard therapy fail to achieve disease control. As a result of the research, confirmation of the allergic theory of the origin of the disease was found. In 70–80 % of cases, children have an allergic variant of inflammation in asthma. But studies at the micro level cannot explain the causes of the development of chronic inflammation in asthma on a whole-organism scale. The immune system is not autonomous and is regulated by the neuroendocrine system. When analyzing the hormonal status of patients with asthma, a decrease in adaptation to stress was noted. Аsthma is characterized by a state of chronic psycho-emotional stress, the maintenance of which is facilitated by disturbances in neuroendocrine regulation. The psychological component is of great importance in the development of asthma. In this regard, the pharmacological approach alone does not solve problems of a psychological nature; there is a need to use methods of psychological correction for patients with asthma. In addition, a large number of studies have examined the similarities between asthma and epilepsy. The use of anticonvulsants significantly improves the condition of patients with epilepsy and asthma. In severe allergic eosinophilic asthma, it is possible to use the neuroprotector dexpramipexole with the effect of reducing the level of eosinophils and a cortico-sparing effect. Thus, the main cause of asthma development is dysregulation of the neuro-immuno-endocrine system, which results in inflammation and bronchospasm. Considering the importance of regulatory systems in the pathogenesis of asthma, it is advisable to identify the neurophenotype of the disease to increase the effectiveness of treatment and the use of anticonvulsants and psychological correction should be considered in addition to the adopted therapeutic program.

The epidemiology, clinical, biochemical and molecular genetic characteristics of mucolipidoses — autosomal recessive lysosomal storage diseases that combine the clinical manifestations of mucopolysaccharidoses and sphingolipidoses — are presented. In accordance with the modern classification, types I, II and III mucolipidoses are classified as glycoproteinoses, and type IV mucolipidoses are classified as gangliosidoses. Mucolipidoses type I, or sialidosis, is caused by the presence of inactivating mutations in the α-neuraminidase gene NEU1, and a related disease is galactosialidosis, accompanied by secondary deficiency of α-neuraminidase and β-galactosidase in the CTSA gene of the protective protein cathepsin A. Both diseases are characterized by early progressive delay in psychomotor development, muscle myoclonus, severe ophthalmopathy and early death of patients. The pathogenesis of diseases is associated with excessive accumulation of sialocontaining glycoproteins and oligosaccharides in lysosomes. Hereditary deficiency of N-acetylglucosaminyl-1-phosphotransferase, necessary for the addition of mannose-6-phosphate to the oligosaccharides of lysosomal enzymes, underlies the development of two allelic diseases caused by mutations in the GNPTAB gene mucolipidoses type II, or “I-cell” disease and mucolipidoses type III, alpha/beta or pseudopolydystrophy of Hurler. Mutations in the GNPTG gene, which encodes the gamma subunit of this enzyme, are responsible for the development of the milder type III mucolipidoses (gamma). All these diseases are characterized by impaired phosphorylation and transport of lysosomal enzymes, which is accompanied by severe growth retardation, skeletal abnormalities and early death of patients. Pathogenesis of mucolipidoses type IV, or sialolipidosis, associated with the simultaneous accumulation of phospholipids, sphingolipids, mucopolysaccharides and gangliosides, which occurs as a result of mutations in the MCOLN1 gene, encoding mucolipin 1, which forms a channel localized on the membranes of lysosomes and endosomes, involved in the regulation of lipid and protein transport. The article presents a description of clinical cases of mucolipidosis types II and IIIA. Preclinical trials have shown promise for enzyme replacement therapy, chaperone therapy, and gene therapy for the treatment of sialidosis and galactosialidosis. However, pathogenetic methods of therapy for mucolipidoses have not been described in clinical practice to date.

The use of DNA diagnostics makes it possible to clarify the clinical diagnosis of hereditary kidney disease, determine a personalized treatment strategy, and predict the patient’s health status. Kidney cysts with orphan syndromes and chromosomal mutations are characterized by a high risk of progression of chronic kidney disease to end–stage renal failure in childhood. In 9 patients aged 4 months — 17 years (6 girls and 3 boys) with cystic kidney disease in orphan diseases and hereditary syndromes, assessed the features of the phenotype, the progression of chronic kidney disease. Children over the age of 2 years were stratified with chronic kidney disease stages by NKF–K/DOQI (2002) according to the criterion of glomerular filtration rate calculated by creatinine clearance in the Shwartz formula and the level of microalbuminuria / proteinuria. The description of the phenotype features of kidney cysts in 9 children with orphan diseases and hereditary syndromes is presented: Senior-Løken 6 (1), Meckel–Gruber4 (1), CHARGE (1), papillorenal (1), with deletion of the long arm of chromosome 2 (2), microdeletion syndrome 17q12 (2), with deletion of the short arm of chromosome 12 (1). 6 children were diagnosed with cystosis of both kidneys, 2 with unilateral multicystic dysplastic kidney, 1 with non-functioning multicystic and cystic contralateral kidneys. In 2 children aged less than 2 years with a multicystic dysplastic kidney in microdeletion syndrome 17q12 and CHARGE syndromes, renal function is reduced. Of the 6 patients over the age of 2 years, chronic kidney disease was established: stage with preserved renal function in 1, with reduced function in stage 3 in 2, stage 4 in 1 and stage 5 in 2. Two 17-year-old adolescents with an outcome of terminal chronic kidney disease at the age of 12 underwent kidney transplantation. A fatal outcome was found in a proband with nephronophthysis in Meckel–Gruber4 syndrome due mutations of the CEP290 gene. The features of the clinical phenotype and genotype of cystic kidney diseases associated with orphan syndromes Meckel–Gruber4, Senior-Løken 6, CHARGE, papillorenal due to gene mutations and deletion of the long arm of chromosome 2, microdeletion syndrome 17q12 and deletion of the short arm of chromosome 12 in children are described.

Birth spinal cord injury is damage to the spinal cord of a neonates due to mechanical causes during childbirth. The leading role in the development of spinal cord injury in newborns is played by excessive longitudinal or lateral traction of the spine or excessive twisting. The true incidence of birth spinal cord injury is unclear. There is currently no single classification of birth spinal cord injury and the distinction is made based on morphology, localization, nature and type of disorders. Birth spinal cord injury has 3 main groups of manifestations: stillbirth or rapid death of the newborn; respiratory failure; muscle weakness and hypotension, alternating with spasticity. Along with a visual examination of the newborn, it is recommended to conduct a study of the acid-base balance and blood gases in order to clarify the nature and treatment of respiratory failure; X-ray of the cervical and thoracic spine, ultrasound examination of the spinal cord, computed tomography of the spine and / or magnetic resonance imaging of the spine and spinal cord for the purpose of differential diagnosis; ultrasonic examination of the lungs to detect high placement of the diaphragm in case of damage to the C3–C5 segments of the spinal cord, consultations with a neurologist, anesthesiologist-resuscitator and a neurosurgeon. Mechanic respiratory ventilation is recommended for a newborn with birth spinal cord injury and with signs of damage to the C3–C5 segments and respiratory failure; in the presence of extramedullary damage, fracture or dislocation of the vertebrae — emergency neurosurgical treatment. Rehabilitation includes measures in the form of massage of the upper limb, therapeutic exercise, individual lessons, physiotherapy in order to restore the functions of the muscles and joints of the shoulder girdle; in case of respiratory regulation disorders — home ventilator systems; in case of persistent movement disorders after 1 month of age — transcutaneous electrical neurostimulation of the spinal cord. It is recommended to assess the size of the pregnant woman’s pelvis and the intrauterine presentation of the fetus in order to select the type of delivery to prevent birth spinal cord injury, rational drug therapy and anesthetic care for the pregnant woman in order to prevent dysfunctional labor.