The clinical recommendations on management of children with Gitelman syndrome developed by the experts of the Union of pediatricians of Russia are presented in this article. Gitelman syndrome is a dysfunction of distal renal tubules with further development of hypomagnesemia, hypocalciuria and secondary aldosteronism which determine hypokalemia and metabolic alkalosis. Features of epidemiology, etiology and pathogenesis, disease progression, differential diagnostics and evidence-based treatment are presented.

Obesity — one of the main challenges for the public health around the world in the twenty-first century. It is a leading risk factor for serious complications of the cardiovascular system resulting in 17 million deaths worldwide each year. In Russia only, among young people, the prevalence of the disease is 11,8–16,6% and growing, especially in the last decade. Along with obesity, the problem of sleep disorder becomes increasingly urgent. One of the main factors of sleep disorders with children is the obstructive sleep apnea syndrome (OSA), which is considered as one of the main causes of cardiovascular problems development among adults. Depending on the methods for its diagnosis, children’s OSA occurs in 1–13% of cases, and there is reason to believe that it often remains undiagnosed. With sleep disorders, children get stuck in a vicious circle that causes the development of insulin resistance, nocturnal hypoglycemia, and changes in carbohydrate metabolism.

Background: Vitamin D-deficient states remain highly prevalent in children, according to Russian and foreign studies. Because of this, it is important to conduct timely prevention of rachitis in children, taking into account the commitment to therapy from the parents’ side.Objective: Our aim was to study the preventive efficacy of the Russian-manufactured vitamin D3 solutio oleosa with regard to preventing rachitis.Methods: A short-term prospective comparative study has been conducted. Vitamin D3 was used in the dosages of 400 and 800 ME or 500 and 1000 ME, in the form of an oil or water solution of cholecalciferol in mature and premature (according to the gestation term) children, correspondingly. The control group was comprised of mature children of a comparable age, who received no vitaminoprophilaxis (parental refusal). We evaluate clinical symptoms of rachitis before and after 1 month after the beginning of the study.Results: 111 children aged 4–6 months, of them 66 mature and 45 premature were included into the study. None of the children developed rachitis symptoms while taking vitamin D3 while 8 out of 15 controls (53%) developed signs of rachitis.Conclusion: We demonstrated a comparative efficacy of oil and water solutions of vitamin D3 with regard to preventing rachitis in mature and premature children.

Hypophosphatasia is a rare genetic disorder caused by deficiency of tissue-specific alkaline phosphatase as a result of mutations in the ALPL gene. Depending on the form and severity of the disease, pathology may spawn in utero, in childhood or in adult age. Given functions of alkaline phosphatase, patients experience multisystem disorders: primarily changes in bone (osteoporosis, rachitic deformations, fractures), lung disease (hypoplasia with respiratory failure) and central nervous system (seizures), hypercalcemia with development of nephrocalcinosis. Without timely treatment, the disease may be harmful to life in most cases. Patients required observation of a multidisciplinary team of physicians. The only effective treatment is enzyme replacement therapy with asfotase alpha. It is also necessary to carry out symptomatic treatment and rehabilitation of patients with the use of physiotherapy and therapeutic physical training complexes of exercises.

Background: Misbalance between energy intake and consumption is considered the main reason of obesity. However, over the recent years there has been a lot of emerging data concerning early origins of obesity that forms during intrauterine development and/or early age periods.Objective: Our aim was to study how physically developed are the children of early school ages.Methods: The study included children aged 7 to 10 years. Their physical development was assessed with the WHO AnthroPlus (2009) software.Results: 652 children were examined. Of them, balanced development was found in: according to the WAZ index (body mass/age) — 466/530 (87,9%) schoolchildren; HAZ index (height/age) — 620/652 (95,1%); BAZ (body mass index/age) — only 438/652 (67,2%) children. Excessive body weight was found in 61 (18,8%) of the 324 girls and 65 (19,8%) of the 328 boys (р = 0,891), obesity — in 24 (7,4%) and 52 (15,9%) children correspondingly (р = 0,038).Conclusion: Having evaluated the physical development of early aged schoolchildren between the ages of 7 and 10 years, it is possible to state that there is evidence in favour of higher readings of mass-weight indexes as compared to the standard WHO population. Every third early age schoolchild can have physical development deviations, at the same time boys are obese twice as often as girls.

Frequent bone fractures in infancy require the elimination of a large number (> 100) of genetic disorders. The modern diagnostic method of hereditary diseases characterized by debilitating course is a new generation sequencing. The article presents the results of molecular-genetic study conducted in 18 patients with clinical symptoms of connective tissue disorders. 10 (56%) patients had mutations in the genes encoding type I collagen chains, leading to the development of osteogenesis imperfecta, 5 (28%) — mutations in IV and V type collagen genes that are responsible for the development of Ehlers-Danlos syndrome. 3 (17%) patients had mutations in the gene encoding fibrillin-1 protein, deficiency of which is manifested by Marfan syndrome. However, the correlation between patient's phenotype and discovered mutations in the investigated gene is established not in all cases.

Obesity is one of the most widespread chronic diseases around the world and may be considered a non-infectious epidemic. Virtually everywhere around the world the number of obese children doubles every three decades. Increase in the number of children with obesity and excess body weight is observed in Russia as well. Despite the statement that the main cause of obesity is energy expenditure/consumption imbalance, numerous data obtained in recent years indicate early factors of obesity forming, probably, during the period of intrauterine development and/or infancy and early childhood. The most active growth and maximum plasticity of metabolic processes is observed within 1,000 post-conceptual days, which cover the period of intrauterine development and the first 2 years of a child’s life. The number and quality of nutrients received during that period considerably affect cell differentiation and organ development by means of gene expression, determine the nature of metabolism and affect health condition throughout the whole subsequent life. Given significance of the issue of excess body weight in children and adults, we analyzed the current situation, examined 652 younger Moscow schoolchildren and determined parameters of their physical development. We analyzed anamnestic data, profoundly examined children with excess body weight and obesity and formulated diets for them. This article presents the first stage of our work and a literature review.

OBJECTIVE:Our aim was to examine the predictors of cardiovascular disorders in children affected by obstructive sleep apnea syndrome (OSAS) based on the results of polysomnography and continuous monitoring of blood glycose. METHODS:Before the examination, parents filled in questionnaires concerning their children sleep quality. The procedure was followed by the study of the sleep by means of polysomnography (Embla s 7000, USA). A system of continuous monitoring of blood glucose was applied (Guardianreal-time, Medtronicminimed, USA) by means of which a glycemic profile tissue fluid was studied. RESULTS:A night sleep research of 120 children aged 3-16 y.o. is presented. There were 4 groups depending on the pathology: diseases of the nervous system (n = 31), ENT-pathology (n = 18), bronchial asthma (n = 24) and overweight and obesity (n = 34). The comparison group consisted of 13 apparently healthy children. The study has shown that the parents of every second child with sleep disorders did not know about the fact. The 60 % of the patients with high body mass index (BMI) had a snore, which was significantly higher the in children with normal body mass index--35% (p = 0.012). The index of apnea-hypopnea (AHI) was higher in the patients with ENT-pathology 17 times (p < 0.001) and the patients with obesity 7 times (p < 0.001) in comparison to the comparison group. In the analysis of the overall sample (n = 120) was obtained significant negative correlation with heart rate variability and heart rate (r = 0.405; p < 0.001). It is also shown that among 14 investigated children with OSAS only 8 had episodes of hypoglycemia (less than 3.3 mmol/l) during night sleep. All of them were with a high body mass index and with above average stature (>1sd). CONCLUSION:Children with ENT-pathology and with high high body mass index have high risk of cardio-vascular diseases. Children with above average stature and with increased body mass index affected by OSAS have additional backgrounds for cardiovascular diseases develop- ment as a result of the latent periods of hypoglycemia at night.

Несовершенный остеогенез характеризуется повышенной ломкостью костей наследственного характера с широким спектром клинических проявлений — от перинатально-летальной формы и тяжелых деформаций костей до самых легких типов течения. В большинстве случаев заболевание развивается вследствие аутосомно-доминантной мутации в гене коллагена I типа. В настоящее время подход к пациентам с несовершенным остеогенезом мультидисциплинарный. В качестве лечения с целью уменьшения числа переломов проводится медикаментозная терапия бисфосфонатами, а также активная реабилитация и хирургическая коррекция деформации костей. Более глубокое понимание патогенеза несовершенного остеогенеза может привести к разработке новых и эффективных терапевтических подходов, которые улучшат функциональный исход у пациентов. Ключевые слова: несовершенный остеогенез, хрупкие кости, голубые склеры, частые переломы костей, коллаген, бисфосфонаты, RANKL, склеростин, дети.

The hemolytic uremic syndrome (HUS) is a serious therapeutic problem in pediatrics and pediatric nephrology. HUS is one of the leading causes of acute renal failure with the potential of transforming into terminal chronic renal failure at various periods from the disease onset. The typical form of HUS with a diarrheal prodrome associated with Shiga toxin (STEC) is the most common form. Despite this fact, it requires careful confirmation of infectious etiology to exclude atypical HUS and HUS associated with pneumococcal infection in time. In respect of STEC-HUS it is recommended to conduct adequate symptomatic therapy with a timely dialysis connection if needed. The prognosis here will depend on the anuretic period duration and on the related central nervous system injuries. Atypical HUS is often based on genetic mutations leading to the complement cascade disfunction with uncontrolled activation of the alternative pathway. The overall prognosis for this prone to recurrence form is unfavourable, however, it is recommended to conduct aeculizumabum treatment which will block the terminal components of the complement cascade.

Nephrotic syndrome is a severe renal disease that may result in the end-stage renal failure despite the extent of proteinuria. Prognosis and tactics of therapy of nephrotic syndrome depend both on the morphological diagnosis and on the cause of the disease. It ought to be considered that congenital nephrotic syndrome is resistant to immunosuppressive therapy. However, several foreign authors demonstrate cases of immunosuppressive therapy effectiveness (steroids and cyclosporine A) in a range of familial cases of nephroticsyndrome. Timely detection of children with genetically caused nephrotic syndrome allows to define the patient management tactics in each case on time. This clinical case represents non-severe course of congenital nephrotic syndrome caused by an NPHS2 gene mutation, which had not before been described neither in Russian nor in foreign literature. The authors deem introduction of the molecular genetic analysis to the routine clinical practice for all cases of congenital nephrotic syndrome and steroid-resistant nephrotic syndrome reasonable.

The issues of diagnosing and treating urinary tract infections and their role in development of renal injury are being actively discussed by scientists and practicing pediatricians. The article presents the most recent data on etiological factors, pathogenesis and clinical manifestations of this disease. It provides recommendations on diagnosis and management of patients depending on their age. The article presents a discussion of antibacterial therapy course duration and indications for anti-relapse treatment. The study demonstrates that intravenous antibacterial therapy must be launched immediately in neonates in the event of pyretic fever; empirical antibacterial therapy must be launched immediately in older children after diagnosis of the urinary tract infection has been confirmed; subsequently, treatment ought to be corrected depending on the results of a bacteriological trial, sensitivity to antibiotics and effectiveness of the prescribed antibiotic. Along with normalization of urination rhythm and water intake schedule, antibacterial preventive therapy might be considered, if effective, in the event of recurrent nature of the urinary tract infection.

Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the child's life and slow the progression of the disease. The article focuses on a rare genetic lysosomal storage disease which is inherited in autosomal recessive fashion - Niemann - Pick disease, type C. Types of clinical course and diagnostic methods are described in detail.

The article describes modern views on etiology and pathogenesis of various variants of hypophosphatemic rickets and main approaches to diagnostics and treatment of this disease; it also presents a range of clinical cases from the authors’ practice.

In order to study self-attitude of younger adolescents with chronic diseases, we examined 86 children with chronic glomerulonephritis and 78 conditionally healthy peers. The average disease duration was 3.5 years. The authors revealed that the level of integral self-attitude, its components (self-esteem, autogenic sympathy, self-interest, expected positive attitude) and sets on internal actions towards one’s ego (self-confidence, attitude of other people, self-acceptance, self-interest) of younger adolescents with chronic diseases is significantly lower than in healthy peers. Special social situation arising in connection with the disease leads to distorted development of the personality. The adolescent’s personality becomes even more vulnerable to stressful situations, social and psychological deadaptation.

The article presents information value of non-invasive arteriography, which reveals early signs of cardiovascular pathology formation in children, using a large number of trials in children. The authors examined predictors of cardiovascular catastrophes’ development, confirmed in adults: aortic wall’s stiffness, central aortic pressure and pulse pressure – that have not been sufficiently studied in children yet. The article shows that the high-technology method of non-invasive arteriography allows revealing changes of these parameters in children on the preclinical stage. It also shows their correlation with body mass index, fatty hepatosis, direct correlation of weight gain with connection of pulse wave velocity and central blood pressure and importance of follow-up evaluation of these parameters. Heterogeneity of the group of obese children in terms of these parameters is a premise for development of individual approach to control and prevention of cardiovascular complications’ development risk in childhood.