vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v13i3.1026vsp-190Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESСОВРЕМЕННЫЕ ПОДХОДЫ К ТЕРАПИИ МУКОПОЛИСАХАРИДОЗОВ У ДЕТЕЙMODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSISБучинскаяН. В.BuchinskayaN. V.

Buchinskaya Natal’ya Valer’evna, assistant of the Department of Clinical Pediatrics

nbuchinskaia@gmail.comЧиковаИ. А.ChikovaI. А.nbuchinskaia@gmail.comИсуповаЕ. А.IsupovaE. А.nbuchinskaia@gmail.comКалашниковаО. В.KalashnikovaО. V.nbuchinskaia@gmail.comКостикМ. М.KostikМ. М.nbuchinskaia@gmail.comЧасныкВ. Г.ChasnykV. G.nbuchinskaia@gmail.comСанкт-Петербургский государственный педиатрический медицинский университетРоссияSaint-Petersburg State Pediatric Medical UniversityRussian Federation201419062014133Вопросы современной педиатрии3543Copyright © Бучинская Н.В., Чикова И.А., Исупова Е.А., Калашникова О.В., Костик М.М., Часнык В.Г., 20142014Бучинская Н.В., Чикова И.А., Исупова Е.А., Калашникова О.В., Костик М.М., Часнык В.Г.Buchinskaya N.V., Chikova I.А., Isupova E.А., Kalashnikova О.V., Kostik М.М., Chasnyk V.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/190

Мукополисахаридозы — группа наследственных нарушений обмена веществ, характеризующаяся накоплением гликозаминогликанов вследствие дефицита специфических лизосомных ферментов. Цель исследования: изучить влияние ферментзаместительной терапии на соматическое состояние и психомоторное развитие детей с мукополисахаридозом I и II типа различной степени тяжести в динамике и оценить ее эффективность. Пациенты и методы: в исследовании использованы данные пятилетнего наблюдения за 13 пациентами с мукополисахаридозом I и II типа. В ходе работы выполнен анализ эффективности терапии по следующим критериям: данные объективных осмотров, ультразвуковое исследование печени, селезенки и сердца, количественное определение экскреции гликозаминогликанов мочи, оценка суставного и внесуставного поражения по шкале JADI, оценка социального возраста и социального коэффициента о шкале Долла. Результаты: получены достоверные различия в содержании гликозаминогликанов мочи, а также по результатам объективной оценки размеров печени и селезенки и ультразвукового исследования площади селезенки через 6 и 12 мес лечения по сравнению с исходными данными. Зарегистрировано достоверное снижение показателя социального коэффициента на первом этапе терапии, далее различия носят незначительный характер. Существенной динамики суставного статуса на фоне терапии обнаружено не было, что связано со стабилизацией процесса. Не получено достоверных доказательств как положительной, так и отрицательной динамики по поражению миокарда, ультразвуковым характеристикам размеров долей печени. Выводы: ферментзаместительная терапия является эффективным методом лечения соматических проявлений различных типов мукополисахаридозов.

Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes. Background: Research objective was to study the influence of enzyme replacement therapy on a somatic state and psychomotor development of children with mucopolysaccharidosis type I and II of various severity in dynamics and to estimate its efficiency. Patients and methods: The data of five years' supervision over 13 patients with mucopolysaccharidosis type I and II is used in the research. During the work the therapy efficiency analysis is made by the following criteria: data of objective examinations, ultrasound investigation of liver, spleen and heart, quantitative determination of excretion of urine glycosaminoglycans, assessment of articular and abarticular affection by JADI scale, assessment of social age and social coefficient by Doll's scale. Results: The reliable distinctions in the contents of urine glycosaminoglycans and also by results of an objective assessment of the liver and spleen sizes and of ultrasonic research of the spleen area in 6 and 12 months of treatment in comparison with basic data are received. The reliable decrease in social coefficient indicator at the first stage of therapy is registered, and then distinctions have insignificant character. There was no essential dynamics of the articular status on treatment that is connected with process stabilization. There are no reliable evidences of both positive and negative dynamics on myocardium involvement, ultrasonic characteristics of the sizes of hepatic lobes. Conclusion: Enzyme replacement therapy is an effective method of treatment of somatic manifestations of various types of mucopolysaccharidosis.

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The authors declare that there are no conflicts of interest present.