ОЦЕНКА КАЧЕСТВА ЖИЗНИ ДЕТЕЙ, БОЛЬНЫХ ФЕНИЛКЕТОНУРИЕЙ

Background: Phenylketonuria (PKU) — the most common inherited disorder of amino acid metabolism, identified in Russia by neonatal screening. The results of dietary treatment demonstrate a positive effect. However, the quality of PKU patients life remains unknown. Objective: The aim of the study was to assess the quality of PKU children life compared to their healthy peers, also depending on the timing of the treatment start and the patient's age. Methods: The study involved 64 pairs — PKU child and one of his parents. It was used the common questionnaire survey Pediatric Quality of Life Inventory (PedsQLtm4.0, Varni et al., USA, 2001) and the program SPSS v. 14.0 (US) for statistical processing of the results. Results: It was found the statistically significant (p 0.001) differences between PKU patients and healthy children in the physical, emotional, social and role functioning. The most pronounced differences were observed in the social (70 points vs 90 respectively) and role (57.5 vs 80 respectively) functioning. Maximum significant correlation (p 0.001) was installed between the social functioning of PKU patients and timing of the dietary treatment. Also the statistically significant relationship (p 0.05) was found between the role functioning and patient’s age and timing of the treatment. The assessment points of social and role functioning were higher (p 0.05) in the PKU patients subgroup with early treatment initiation. Conclusion: These results confirmed the need of early diagnostics of PKU and initiation of dietary treatment, as well as the organization of timely psychological support for parents of sick children. Фенилкетонурия — одно из наиболее распространенных в России наследственных нарушений обмена аминокислот, выявляемых путем неонатального скрининга. Диетотерапия, назначаемая при данной патологии, демонстрирует положительный эффект, однако качество жизни больных фенилкетонурией различных возрастных групп и в зависимости от сроков начала лечения остается неизученным. Цель исследования: произвести оценку качества жизни больных фенилкетонурией детей в сравнении с их здоровыми сверстниками. Методы: в исследовании были задействованы 64 пары — ребенок с фенликтонурией и его родитель. Для анкетирования использовали общий опросник Pediatric Quality of Life Inventory (PedsQLтм4.0, Varni и соавт., США, 2001). Статистическую обработку полученных результатов осуществляли при помощи программы SPSS v. 14.0 (США). Результаты: установлены статистически значимые (p 0,001) различия между больными фенилкетонурией и здоровыми детьми по параметрам физического эмоционального, социального и ролевого функционирования; наиболее выраженные отличия отмечены в социальном (значение медианы 70 против 90 у здоровых) и ролевом (57,5 против 80, соответственно) функционировании. Максимально значимая корреляция (p 0,001) установлена между социальным функционированием пациентов с фенилкетонурией и сроком начала диетического лечения, а также получена статистически значимая функциональная связь (p 0,05) ролевого функционирования с возрастом пациентов и сроком начала лечения. Показатели социальной адаптации (социальное и ролевое функционирование) были выше (p 0,05) в подгруппе больных фенилкетонурией детей, своевременно выявленных и рано начавших лечение. Заключение: результаты исследования подтверждают необходимость ранней диагностики фенилкетонурии, своевременного начала диетического лечения, а также организации информационной и консультативной помощи родителям больных детей.

PHYSICAL DEVELOPMENT OF ADOLESCENTS TAKING INTO ACCOUNT ABORNING BODY MASS

(Voprosy sovremennoi pediatrii — Current Pediatrics. 2010;9(5):133-134

PHYSICAL DEVELOPMENT OF ADOLESCENTS TAKING INTO ACCOUNT ABORNING BODY MASS

(Voprosy sovremennoi pediatrii — Current Pediatrics. 2010;9(5):133-134)</em

CHARACTERISTIC FEATURES, INDICATIONS AND EFFICACY ASSESSMENT OF RUSSIAN INFANT MILK FORMULAS

The article highlights diet optimization in pregnant women and nursing mothers with «Femilac» (zao company «Nutritec», Russia) and «Lactamil» (zao company «Nutritec», Russia) providing composition, indications for use and clinical efficacy assessment. The article reviews chemical composition and clinical trial results of the pediatric milk formulas «Nutrilac 0–6», «Nutrilac 6–12», «Nutrilac 0–12», «Nutrilac Bifi» and «Nutrilac KM» developed for mixed and formula feeding of babies and infants under 1 year.Key words: food, alimentary products, hypogalactia, mixed and formula feeding, digestive functional disorders, adapted milk formulas

GALACTOSEMIA IN NEWBORN CHILDREN

Galactosemia is a hereditary disease, the pathogenetic treatment of which is based on dietotherapy. Early diagnosing and the adequate choice of the diet improve the development forecasts for the ill child. The article describes a classical galactosemia case in a newborn. It is shown that despite diagnosing the disease on the second month of life, the adequate selection of etiopathogenetic dietotherapy and etiotropic therapy of the concurrent diseases helped compensate the inborn galactose metabolism defect and optimize the long-term forecast for the child.Key words: inborn metabolism dysfunctions, alactosemia, dietotherapy, newborn children

CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA

The data of different firms of hereditary galactosemia was analyzed in this article. Clinical and biochemical characteristics and molecular and genetic features of diagnostics of this disease were described. The information about differential diagnosis and problems, related with hereditary galactozemia screening in Russia was given.Key words: children, galactosemia, treatment, screening

MODERN APPROACHES TO ORGANIZATION OF SUPPLEMENTAL FEEDING FOR THE CHILDREN, SUFFERING FROM FOOD INTOLERANCE AND ALIMENTARY DEPENDENT DISEASES

The article highlights the issues related to the prescription of supplemental feeding to the children with various pathology: food intolerance (food allergy, lactase deficiency, gluten sensitive enteropathy) and alimentary dependent diseases (iron deficiency anemia, oligotrophy). The authors substantiated the necessity and expediency of supplemental feeding introduction. They also examined the basic principles of its purpose. The authors described the peculiarities of each of the supplemental feeding groups and noted the expediency of manufactured product use. Along with that, they pointed out to the dependence of terms and order, in which different products and dishes of supplemental feeding are introduced, upon the character of the disease and the nutritive status of a child.Key words: children, supplemental feeding, manufactured Supplemental feeding products, food intolerance, alimentary dependent diseases

MODERN APPROACHES TO ORGANIZATION OF SUPPLEMENTAL FEEDING FOR THE CHILDREN, SUFFERING FROM FOOD INTOLERANCE AND ALIMENTARY DEPENDENT DISEASES

The article highlights the issues related to the prescription of supplemental feeding to the children with various pathology: food intolerance (food allergy, lactase deficiency, gluten sensitive enteropathy) and alimentary dependent diseases (iron deficiency anemia, oligotrophy). The authors substantiated the necessity and expediency of supplemental feeding introduction. They also examined the basic principles of its purpose. The authors described the peculiarities of each of the supplemental feeding groups and noted the expediency of manufactured product use. Along with that, they pointed out to the dependence of terms and order, in which different products and dishes of supplemental feeding are introduced, upon the character of the disease and the nutritive status of a child.Key words: children, supplemental feeding, manufactured Supplemental feeding products, food intolerance, alimentary dependent diseases.</strong

THE RESULTS OF CLINICAL APPROBATION OF NEW LOW_PROTEIN FOOD PRODUCED DOMESTICALLY

The results of multicenter clinical approbation of specialized foods of «Nutrigen» line are described in this article. An assessment of activity of low protein compound for baking bread and dried protein free beverage with milk flavor was carried out in genetic centers of Moscow, Saint-Petersburg and Krasnodar. The results of a trial show that new domestic foods have an opportunity to be widely used in dietotherapy of children with hereditary metabolic diseases.Key words: low_protein compound, dietotherapy, phenylke tonuria