vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v18i3.2037vsp-2139Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSРезультаты ферментозаместительной терапии и трансплантации гемопоэтических стволовых клеток у пациентов с синдромом Гурлер: клинические случаиEnzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation Results in Patients with Hurler Syndrome: Clinical Caseshttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

кандидат медицинских наук, доцент кафедры факультетской педиатрии педиатрического факультета

rsmu@rsmu.ruhttps://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.ЖурковаН. В.ZhurkovaNatalia V.ЗахароваЕ. Ю.ZakharovaEkaterina Yu.МихайловаС. В.MikhaylovaSvetlana V.РевуненковГ. В.RevunenkovGrigory V.Российский национальный исследовательский медицинский университет им. Н.И. Пирогова; Центральная клиническая больница РАНРоссияPirogov Russian National Research Medical University; Central Clinical Hospital, RASRussian FederationНациональный медицинский исследовательский центр здоровья детейРоссияNational Medical Research Center of Children’s HealthRussian FederationМедико-генетический научный центр им. академика Н.П. БочковаРоссияResearch Centre for Medical Genetics, MoscowRussian FederationРоссийская детская клиническая больница, Российский национальный исследовательский медицинский университет им. Н.И. ПироговаРоссияRussian Children’s Clinical Hospital of Pirogov Russian National Research Medical UniversityRussian Federation201918092019183196202Copyright © Вашакмадзе Н.Д., Намазова-Баранова Л.С., Журкова Н.В., Захарова Е.Ю., Михайлова С.В., Ревуненков Г.В., 20192019Вашакмадзе Н.Д., Намазова-Баранова Л.С., Журкова Н.В., Захарова Е.Ю., Михайлова С.В., Ревуненков Г.В.Vashakmadze N.D., Namazova-Baranova L.S., Zhurkova N.V., Zakharova E.Y., Mikhaylova S.V., Revunenkov G.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/2139

Мукополисахаридоз I типа (МПС I) — наследственная болезнь, характеризующаяся снижением активности фермента альфа-L-идуронидазы с последующим накоплением гепаран- и дерматансульфата в лизосомах. Заболевание редкое, распространенность составляет от 0,5 до 4 случаев на 100 000 живорожденных детей. Тип наследования МПС I — аутосомно-рецессивный. В настоящее время доступны два основных метода лечения пациентов с МПС I — трансплантация гемопоэтических стволовых клеток (ТГСК) и ферментозаместительная терапия (ФЗТ). ТГСК может быть лучшим вариантом лечения для пациентов с тяжелой формой МПС I (синдром Гурлер), особенно, если сопровождается ФЗТ в перитрансплантационном периоде. Успешное приживление донорских клеток смягчает многие клинические проявления, связанные в том числе с обструктивными заболеваниями дыхательных путей, гепатоспленомегалией, нарушениями функций сердечно-сосудистую системы. ТГСК предотвращает ухудшение когнитивных функций и другие патологические проявления со стороны центральной нервной системы. Представленные клинические примеры отражают разное течение болезни в зависимости от возраста постановки диагноза, начала ФЗТ и возраста проведения ТГСК.

Mucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5–4 cases on 100.000 live-birth infants. Meantime there two approaches in MPS I treatment: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). HSCT can be the best option for treatment of patients with severe MPS I (Hurler syndrome). Successful engraftment moderates such clinical signs as obstructive airway diseases, hepatosplenomegaly, cardiovascular system dysfunctions. HSCT prevents cognitive functions decline and other pathologic features of central nervous system. Presented clinical cases show various clinical courses according to age of diagnosis, ERT onset and HSCT implementation.

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