The prevalence of formula feeding necessitates the creation of adapted milk formulas. Specialists are constantly working on the composition of breast-milk substitutes, improving the formula and bringing the composition of macro- and microelements as close as possible to female breast milk. An important achievement in the development of modern adapted milk formulas is their enrichment with immunonutrients and biologically active components that influence the formation of an adequate immune response, affect the hormonal profile, enzymatic activity in the gastrointestinal tract, intestinal microbial community and participate in metabolic programming. Key words: breast-milk substitutes, alpha-lactalbumin, casein, lactoferrin, long-chain polyunsaturated fatty acids, lactose, probiotics, prebiotics, oligosaccharides

Cholestasis is associated with various chronic liver diseases both in childhood and in adulthood. Stagnation of bile and its insufficient secretion into the digestive tract cause malabsorption of fats and fat-soluble vitamins. Increased energy requirements and inadequate energy intake lead to eating disorders, which are especially dangerous in childhood. Weight and height deficits in children with cholestasis increase the risk of complications and accelerate the progression of the disease. A comprehensive assessment of nutritional status using all available methods allows timely initiation of correction of the detected disorders. This article presents current approaches to the diagnosis of nutritional status disorders and features of diet therapy in children with chronic liver diseases occurring with cholestasis. Key words: cholestasis, children, malabsorption, diet therapy, nutritional status

Objective. To study the frequency and structure of comorbid pathology in children with sarcopenic obesity. Patients and methods. This retrospective study included 726 children aged 10 to 17 (13 [12; 15]) years, among whom 54.9% were girls. Anthropometric, laboratory and instrumental examinations were performed to diagnose non-alcoholic fatty liver disease (NAFLD), arterial hypertension (AH), and metabolic syndrome (MS). Body fat mass and skeletal muscle mass were determined by bioelectrical impedance analysis. Sarcopenic obesity was diagnosed when the muscle-to-fat ratio (MFR) fell below the reference range. Results. The frequency of sarcopenic obesity in the total group of children was 83.3%, 71.2% in girls and 98.2% in boys. MFR was negatively correlated with the body mass index standard deviation score (BMI SDS) (R = -0.66, p < 0.05). Sarcopenic obesity was associated with an increase in the frequency of comorbidities: in children with decreased MFR, NAFLD was detected in 74.7%, AH in 35.9%, and MS in 29.6%; with normal MFR values, the frequency of comorbidities was 52.9%, 14.0%, and 14.9%, respectively (p < 0.001). Median MFR in children with uncomplicated obesity (0.78 [0.67; 0.92]) was significantly higher than in patients with NAFLD (0.67 [0.58; 0.82]), AH (0.66 [0.52; 0.78]), and MS (0.68 [0.56; 0.83]), p < 0.001. Absolute values of skeletal muscle mass in most of the children remained within or exceeded the reference range. Conclusion. Most children with exogenous constitutional obesity were diagnosed with sarcopenic obesity. Sarcopenic obesity in children was accompanied by an increase in the frequency of non-alcoholic fatty liver disease, arterial hypertension, and metabolic syndrome. MFR can be used to assess the risk of obesity complications in children. Key words: obesity, skeletal muscle mass, sarcopenic obesity, children, metabolic syndrome, non-alcoholic fatty liver disease

The EAC Guidelines represent the views of the EAC, and were produced after careful consideration of the scientific and medical knowledge, and the evidence available at the time of their publication.

Objective. To develop an algorithm for selecting a nutritional support / enteral nutrition product in children with cerebral palsy based on nutritional status indicators and the nature of concomitant pathology. Patients and methods. This study included 261 children aged 2 to 17 years (159 (61%) boys) diagnosed with spastic cerebral palsy. All children were divided into different groups according to the Gross Motor Function Measure (GMFM) level and feeding method (per os / gastrostomy). Nutritional status and characteristics of gastrointestinal symptoms were investigated, and actual nutrition was assessed. Body composition was evaluated by measuring triceps skinfold thickness and mid-upper arm circumference. Dietary adjustments were made considering the identified disorders of nutritional status and gastrointestinal function. Follow-up examination was performed after 6–9 months to assess the efficacy of diet therapy. Results. An underweight condition was detected in 40–79% of cases and was most frequently observed in groups IV, V, VTF of GMFCS levels: 14 (21.9%), 33 (40.7%) and 18 (39.1%) children, respectively (pVTF–V–IV < 0,001). Stunting was recorded in groups IV, V, and VTF. The most common gastrointestinal disorder was constipation (47.1%). Energy deficiency was registered in 213 (81.6%) children and amounted to 12.3–61.8% from the norm. The rate of macronutrient deficiency: protein – 11.4–60.0%, fats – 10.9–61.6%, carbohydrates – 20.3–72.6% from the individual norm / recommended dietary intake. In the follow-up period, statistically significant positive dynamics of weight and height indicators, an increase in fat mass and skeletal muscle mass, and relief of gastrointestinal manifestations were observed against the background of diet therapy. Analysis of findings allowed us to develop an algorithm for selecting a nutritional support / enteral nutrition product for children with cerebral palsy. Conclusion. Evaluation of nutritional status and correction of its disorders requires a comprehensive approach in patients with cerebral palsy. In the absence of positive dynamics after 1–3 months, it is necessary to revise a dietary regimen. Key words: diet therapy algorithm, cerebral palsy, motor activity level, underweight, nutritional support

Objective. To assess body composition and actual nutrition in underweight children. Patients and methods. This study included 455 underweight children aged 3 months to 17 years 11 months (mean age: 7.1 [2.7; 13.1] years), of whom 251 (55.2%) were boys. Physical development was assessed according to the WHO criteria. Body composition was assessed in 243 children by bioelectrical impedance analysis using a portable analyzer “InBody S10” and a stationary analyzer “InBody 520” (Biospace Co. Ltd., Korea). Actual nutrition was measured in 214 patients. Results. Mild underweight was observed in 188 (41.3%) children, moderate and severe underweight – in 135 (29.7%) and 132 (29%) patients, respectively. Stunting was observed in 118 (25.9%) children, and severe stunting (Z-score < -3) was found in 71 (60.2%) children. In 53.5% of cases, severe malnutrition was diagnosed in patients with a Z-score of < -3. Manifestation of underweight in 82.7% of cases was noted before the age of 3 years. Deficiencies of body fat was registered in 213 (87.7%) children, muscle mass – in 183 (76.6%), body cell mass – in 152 (67%), protein – in 150 (63.3%), minerals – in 159 (67.1%), total body water – in 151 (62.1%). Low values of phase angle (<4.4) were recorded in 69 (45%) children. Analysis of the actual nutrition revealed a hypocaloric diet in 77.1% of cases, with isolated protein deficiency in 2 (0.9%) patients and protein-energy malnutrition in 31.8% of cases. Conclusion. As the duration of malnutrition increases in underweight children, the prevalence of severe forms of underweight and stunting increases. Key words: children, underweight, nutritional status, anthropometry, bioelectrical impedance analysis, actual nutrition

Rheumatic diseases in children are accompanied by a high risk of various nutritional status disorders. Children with this condition are most often diagnosed with growth retardation, overweight or obesity, bone diseases and sarcopenia, which develop against the background of chronic inflammation, aggressive pharmacological treatment and prolonged hypodynamia. In the absence of timely diagnosis and correction, nutritional disorders can have a negative impact on the severity and duration of the disease, reducing the effectiveness of pharmacological treatment and the quality of life of patients. Standard methods for assessing nutritional status, including body composition evaluation, should be part of the clinical monitoring program for rheumatic diseases in children, and prompt initiation of individual diet therapy or nutritional support will minimize the negative impact of these factors on the health of patients. Key words: rheumatic diseases, juvenile osteoarthritis, nutrition, nutritional status

Objective. To study the dynamics of body composition parameters in obese children against the background of hypocaloric diet in inpatient settings. Patients and methods. This study enrolled 89 children aged 5 to 17 (13 [12; 15]) years, of whom 44% were boys. The inpatient treatment program for obesity included a low-fat and low-carbohydrate diet with an energy value of 1668 kcal/day and therapeutic exercise. To assess the effectiveness of treatment, the clinical and anthropometric examination and body composition evaluation by bioelectrical impedance analysis (BIA) using the InBody 770 stationary analyzer (Biospace Co. Ltd., Korea) were performed at the beginning and at the end of inpatient treatment. Body fat mass (FM), fat-free mass (FFM), the amount of total body water, extracellular and intracellular fluid, protein, minerals, and the phase angle were determined. Results. At the beginning of the study, all children were found to have excess FM, and 47 (58%) had an increase in FFM due to muscle mass and intracellular fluid. By the end of treatment, there was a decrease in body weight, body mass index (BMI), BMI SDS, waist and hip circumference (p < 0.001) in all children. The amount of body fat decreased by 4.15% [2,6; 6,7]. Most children showed a statistically significant decrease in all FFM components by 2.4-2.7%. Protein loss during hospitalization was 0.3 kg [0.1; 0.4], mineral loss was 0.07 kg [0.01; 0.14]. The phase angle value at the beginning of the study was 5.5 [5.1; 6.1], at the end of the study – 5.4 [5.1; 5.9], p = 0.07. Conclusion. As a result of short-term adherence to the hypocaloric diet in inpatient settings, all children with obesity demonstrated a decrease in both FM and FFM against the background of a statistically significant decrease in BMI SDS. A comprehensive approach to treatment, combining the recommended calorie intake with the amount of protein according to the age group and structured physical activity, is necessary to preserve FFM in order to maintain resting energy expenditure. Body composition monitoring is required during the treatment of obesity. Key words: obesity, children, treatment, hypocaloric diet, fat-free mass, fat mass, body composition

Undernutrition in children is an important problem of health care due to negative impact on the development of an organism and increase of global morbidity and mortality..Objective. To assess the clinical manifestations and food intake of children with undernutrition.Patients and methods. Four hundred and thirty-one children with undernutrition aged 1 month to 17 years and 11 months (the median of age is 7 [2.5; 13] years), boys – 238 (55.2 %), girls – 193 (44.8 %), were examined. All children underwent anthropometry using Z-Score values by WHO criteria (WHO Anthro and Anthro plus programs). Specialized centile tables were used with subsequent conversion of the obtained indicators into sigma deviations Z-Score in children with genetic syndromes. Undernutrition was registered in children with body mass index (BMI) by age Z-Score ≤ –1, the stunting was diagnosed with growth by age Z-Score ≤-2. Assessment of food intake at home was underwent in 199 children by recording and accounting for weighted food.Results. Mild undernutrition was diagnosed in 175 (40.6 %) children, moderate – in 127 (29.5 %), severe – in 129 (29.9 %) children. Severe undernutrition (43.2 % and 38.9 %) was most often registered in the age groups of 11–14 years and 15–17 years. The stunting was observed in 116 (26.9 %) children. The onset of malnutrition was revealed in three-quarters of children before the age of 1 year. The analysis of food intake revealed hypocaloric diet in 153 (76.9 %) patients, normocaloric diet in 32 (16.1 %) and hypercaloric diet in 14 (7 %) patients. Deficiency of protein, fat and carbohydrate intake was registered in 38.7, 72.4, 78.4 % cases, respectively, by assessment of macronutrient composition of the diet in children with undernutrition.Conclusion. Most children had mild undernutrition. Severe undernutrition was revealed significantly more often in patients of older age groups. Сhildren with undernutrition need early correction of the diet and appointment of nutritional support due to decrease in the energy intake in 76.9 % of children and the imbalance in macronutrients

XXVIII) НАЦИОНАЛЬНЫЙ ДИАБЕТОЛОГИЧЕСКИЙ КОНГРЕСС С МЕЖДУНАРОДНЫМ УЧАСТИЕМ «САХАРНЫЙ ДИАБЕТ И ОЖИРЕНИЕ -НЕИНФЕКЦИОННЫЕ МЕЖДИСЦИПЛИНАРНЫЕ ПАНДЕМИИ XXI ВЕКА» СБОРНИК ТЕЗИСОВ 158 СОСТОЯНИЕ КОСТНОЙ ТКАНИ И ОБЕСПЕЧЕННОСТЬ ВИТАМИНОМ D ПРИ НЕАЛКОГОЛЬНОЙ ЖИРОВОЙ БОЛЕЗНИ ПЕЧЕНИ У ДЕТЕЙ С ОЖИРЕНИЕМ Павловская Е .В . 1 , Шилина Н

Aim: to present the treatment results and the trend of clinical and biochemical parameters in two patients with lysosomal acid lipase deficiency (LALD) during enzyme replacement therapy (ERT). The reasons for the in-depth study of patients were the periorbital "shadows of intoxication" (hyperpigmentation), an increase in the liver and spleen sizes, revealed during medical examination, as well as the long-term subfebrility. Nonspecific clinical disease manifestations required an extended diagnostic search. LALD diagnosis, confirmed by the molecular genetic study results, was made at the age of 7 and 12 years. In both clinical cases, the prescription of pathogenetically based therapy provided positive trend in the form of improvement in physical development, reduction in the liver and spleen sizes, and persistent relief of hepatic cytolysis. The article considers the difficulties that a medical practitioner may face when monitoring patients with LALD receiving pathogenetic therapy. Special attention is paid to the possible causes of insufficiently effective reduction of cholesterol levels during ERT. The article also notes the importance of timely diagnosis of LALD, characterized by continuous pathological storage of cholesteryl esters in lysosomes, which is associated with the risk of irreversible lesions of organs and tissues. KEYWORDS: children, Lysosomal acid lipase deficiency, cholesteryl ester storage disease, dyslipidemia, cytolysis, sebelipase alfa, enzyme replacement therapy. FOR CITATION: Polyanskaya N.A., Gorbunova A.A., Pavlinova E.B. et al. Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy. Russian Journal of Woman and Child Health. 2022;5(3):270–276 (in Russ.). DOI: 10.32364/2618-8430-2022-5-3-270-276.

Lysosomal acid lipase deficiency (LAL-D) is a monogenic progressive life-threatening condition characterized by abnormal lipid profiles in most patients of all ages. Timely diagnosis and early pathogenetically-oriented treatment (available in Russia) are crucial for children and young adults since abnormal serum levels of lipids are associated with the onset and severity of atherosclerosis in adolescence, young and middle age. The prognosis of LAL-D without pathogenetically oriented treatment is poor. Data on cholesteryl ester storage disease (a variant of LAL-D in children and adults), early atherosclerosis, coronary heart disease, aortic calcification, etc., are available. However, early diagnosis of LAL-D is difficult due to long-term latent course and nonspecific clinical signs. In December 2020, a panel of leading Russian experts in the diagnosis and treatment of orphan diseases and lipidologists was held in Moscow. This panel developed an algorithm to optimize the early diagnosis of dyslipidemias in children and young adults and identify patients with LAL-D in a total population of patients with lipid profile abnormalities. KEYWORDS: lysosomal acid lipase deficiency, lipid profile, atherosclerosis, lipid center. FOR CITATION: Ezhov M.V., Zakharova E.Yu., Avramenko A.A. et al. Timely diagnosis of lysosomal acid lipase deficiency in children and young adults with lipid profile abnormalities. Expert opinion. Russian Journal of Woman and Child Health. 2021;4(3):268–276 (in Russ.). DOI: 10.32364/2618-8430-2021-4-3-268-276.

Objective. To assess nutritional status of children with undernutrition without chronic diseases.Patients and methods. Eighty one children without chronic diseases and with undernutrition aged 3 months to 17 years and 2 months, 41 boys (50.6 %), 40 girls (49.4 %), were examined. The anthropometry was assessed by WHO criteria. The complete blood count (n = 69), blood biochemistry (n = 62), insulin level and vitamin status were examined. Bioelectric impedance analysis (n = 58) and indirect respiratory calorimetry (n = 28) were performed. The food intake was assessed in 28 patients.Results. Mild undernutrition was diagnosed in 35 (43.2 %) children, moderate - in 30 (37 %), severe - in 16 (19,8 %) children. The stunting (Z-score height to age < -2) was revealed in 3 (3,7 %) children. Anemia was found in 4 (5.8 %) children, absolute lymphopenia - in 2 (2.9 %), hypoproteinemia in 8 (12.9 %), hypoalbuminemia - in 1 (1.5 %), hypocholesterolemia - in 7 (11.3 %), hypercholesterolemia - in 6 (9.7 %) children. None of children had hypoglycemia. Insulin was decreased in 9 (15.5 %) children. Deficiency of vitamin D was found in 11 (13.6 %) patients. Decrease of fat mass was found in 52 (89,7 %) patients, muscle mass - in 42 (72.4 %), active cell mass - in 18 (31 %), protein - in 37 (63.8 %), minerals - in 41 (70.7 %), total body water - in 36 (62.1 %) patients. Decrease of the phase angle (<4.4) was recorded in 13 (22,4 %) children. Resting energy expenditure was normal in 12 (42,8 %) patients. Carbohydrate oxidation rate was decreased in 20 (71,4 %) children, fat oxidation rate was increased in 15 (53,6 %), protein oxidation rate was normal in 15 (53,6 %) children. The food intake was characterized by low energy intake in 21 (75 %) children. Deficiency of protein, fat and carbohydrate intake were found in 42.9, 60.7 and 82.1 % patients, respectively. Low energy intake due to all macronutrients deficiency was revealed in 35.7 % children.Conclusion. Most children with undernutrition without chronic diseases have a decrease in fat and muscle body components, low energy value of diet and imbalance of macronutrients. Changes in resting metabolism were also revealed.

Objective. To evaluate the efficacy and safety of glecaprevir/pibrentasvir among children with chronic hepatitis C (CHC). Patients and methods. This study included 15 children diagnosed with CHC (10 boys and 5 girls) aged between 12 and 17 years (median age 14.9 [14.1;15.4] years). All children received Maviret (glecaprevir/pibrentasvir, GLE/PIB) at a fixed dose of 300 mg of GLE plus 120 mg of PIB (3 tablets containing 100 mg/40 mg of GLE/PIB) with food once a day; treatment duration depended on the virus genotype, presence or absence of liver cirrhosis, and previous treatment for CHC. Results. The majority of patients (n = 11) had earlier received a course of antiviral therapy with interferon: 5 children received both interferon α-2a monotherapy and pegylated interferon α-2b with ribavirin at different times, while 6 children received only a course of pegylated interferon α-2b with ribavirin. Treatment was prescribed in accordance with patient characteristics. Fourteen children started an 8-week course of GLE/PIB; 1 boy infected with hepatitis C with 3 genotype received a 16-week course of GLE/PIB due to a history of treatment failure on interferons. Sustained virologic response (SVR) was registered in all study participants 12 weeks after treatment completion. None of the patients interrupted treatment or experienced virological breakthrough. All observed adverse events were mild; all of them were not associated with the therapy: 4 children (26.7%) had upper respiratory tract infections, catarrhal otitis media (6.7%), fatigue (6.7%), and metatarsal fracture (6.7%). Conclusion. Combined antiviral therapy demonstrated SVR in 100% of children with CHC. All adverse events were mild and did not require treatment interruption or withdrawal. Key words: chronic hepatitis C, antiviral therapy, direct-acting antiviral drugs, children, efficacy

Aim. To study the features of the nutritional status, including physical growth, body composition, energy value of the diet and the amount of cholesterol consumed with food, in children with familial hypercholesterolemia (FH).Patients and methods. The study included 39 children (19 girls, 20 boys) with familial hypercholesterolemia, both genetically confirmed (n = 11) and established on the basis of Simon Broome criteria (n = 28), aged 9.9 [6.0; 12.9] years. All children were assessed for physical growth based on the Z-score BMI, Z-score height, Z-score body weight/height calculated using the programs Anthro and Anthro plus; analysis of actual nutrition using a standard application program; study of body composition using the InBody 770 bioimpedance analyzer, the basal metabolic rate measured by indirect calorimetry.Results. 55 % of children with FH had harmonious physical growth, 27 % had a body weight deficit, 18 % were overweight or obese. 53 % of patients consumed more than 200 mg of cholesterol per day, while half of them consumed more than 300 mg of cholesterol per day. The range of excess consumption of cholesterol in comparison to the recommended physiological needs for patints with FH ranged from 24 to 67 %. The fat mass according to the body composition in 47 % of patients with FH is within the normal range, in 39 % it is reduced by 18-74 %, in 14 % it is increased by 14-197 %. The median fat percentage was 17.8 [12.7; 22.4]%. According to indirect calorimetry, it was found that the level of resting energy needs corresponded to age needs in 21 % patients, in 8 % it was decreased of 2-26 %, in 2/3 of children its increase was recorded by 3-69 %. The rate of fat oxidation, on the contrary, was increased in 71 % of children by 3-86 % and reduced only in 6 %.Conclusion. The physical growth of children with FH was mainly average, harmonious, while a third of the children had a mass deficit. The level of the main indicators of lipid metabolism did not depend on the physical growth of patients. This pathology in children with normal body weight or with a body weight deficit often remains undiagnosed.

Rationale: Deficiency of nutrients during active growth of children negatively affects the body and the health development.

Rationale: Undernutrition is an actual problem in pediatrics, due to weight and growth delay, increases morbidity and mortality, length of hospital stay and financial costs of health care.