vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v15i6.1652vsp-1693Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWОртопедическая патология у детей с мукополисахаридозом I типаOrthopedic Pathology in Children with Mucopolysaccharidosis Type IВашакмадзеН. Д.VashakmadzeNato D.

кандидат медицинских наук, заведующая отделением восстановительного лечения детей с болезнями сердечно-сосудистой системы НЦЗД, доцент кафедры факультетской педиатрии № 1 РНИМУ им. Н.И. Пирогова Адрес: 119991, Москва, Ломоносовский пр-т, д. 2, стр. 1

Moscow, Russian Federation

Vashakmadze@nczd.ruhttps://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Москва, Российская Федерация

Moscow, Russian Federation

ГеворкянА. К.GevorkianAnait K.

Москва, Российская Федерация

Moscow, Russian Federation

КузенковаЛ. М.KuzenkovaLudmila M.

Москва, Российская Федерация

Moscow, Russian Federation

ПодклетноваТ. В.PodkletnovaTatiana V.

Москва, Российская Федерация

Moscow, Russian Federation

БабайкинаМ. А.BabaykinaMarina A.

Москва, Российская Федерация

Moscow, Russian Federation

АникинА. В.AnikinAnatoly B.

Москва, Российская Федерация

Moscow, Russian Federation

КузнецоваГ. В.KuznetsovaGalina B.

Москва, Российская Федерация

Moscow, Russian Federation

ОсиповаЛ. А.OsipovaLiliya A.

Москва, Российская Федерация

Moscow, Russian Federation

ЖердевК. В.JerdevKonstantin V.

Москва, Российская Федерация

Moscow, Russian Federation

Научный центр здоровья детей Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияScientific Center of Children’s Health Pirogov Russian National Research Medical UniversityRussian FederationНаучный центр здоровья детей Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Первый Московский государственный медицинский университет им. И.М. СеченоваРоссияScientific Center of Children’s Health Pirogov Russian National Research Medical University Sechenov First Moscow State Medical UniversityRussian FederationНаучный центр здоровья детейРоссияScientific Center of Children’s HealthRussian Federation201629122016156562567Copyright © Вашакмадзе Н.Д., Намазова-Баранова Л.С., Геворкян А.К., Кузенкова Л.М., Подклетнова Т.В., Бабайкина М.А., Аникин А.В., Кузнецова Г.В., Осипова Л.А., Жердев К.В., 20162016Вашакмадзе Н.Д., Намазова-Баранова Л.С., Геворкян А.К., Кузенкова Л.М., Подклетнова Т.В., Бабайкина М.А., Аникин А.В., Кузнецова Г.В., Осипова Л.А., Жердев К.В.Vashakmadze N.D., Namazova-Baranova L.S., Gevorkian A.K., Kuzenkova L.M., Podkletnova T.V., Babaykina M.A., Anikin A.B., Kuznetsova G.B., Osipova L.A., Jerdev K.V.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/1693

Мукополисахаридоз I типа наследуется по аутосомно-рецессивному типу и обусловлен дефицитом фермента альфа-L-идуронидазы, что приводит к накоплению гликозаминогликанов (преимущественно гепарансульфата и дерматансульфата) в лизосомах и последующей полиорганной дисфункции. Поражение скелета наряду с фенотипическими данными позволяют в раннем возрасте заподозрить это тяжелое генетическое заболевание, характеризуемое прогрессирующим течением. Ранняя ферментозаместительная терапия и/или трансплантация костного мозга позволяют отсрочить наступление необратимых поражений различных органов и систем или уменьшить их выраженность, повысить качество жизни ребенка.

Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. This severe genetic progressive disease can be detected at an early age by skeletal deformities and phenotypic data. Early enzyme replacement therapy and/or bone marrow transplantation can slow down irreversible damages to various organs and systems or reduce their severity and improve the quality of life for a child.

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