pediatricjournalАрхив педиатрии и детской хирургииArchives of Pediatrics and Pediatric Surgery2949-46643033-6783НИКИ детства Минздрава Московской области10.31146/2949-4664-apps-3-1-52-60pediatricjournal-141Research ArticleНЕВРОЛОГИЯNEUROLOGYНовые подходы в диагностике и лечении мукополисахаридоза I типа у детей: клинический случай синдрома Гурлера у ребенка раннего возрастаNew approaches to the diagnosis and treatment of mucopolysaccharidos type I in children: A clinical case of Hurler syndrome in a young childhttps://orcid.org/0000-0001-8390-343XДакукоА. Н.DakukoA. N.https://orcid.org/0009-0005-1225-2330СоболеваА. Ю.SobolevaA. Y.alena20717@gmail.comhttps://orcid.org/0000-0002-6444-1871ПавлиноваЕ. Б.PavlinovaE. B.https://orcid.org/0009-0006-9506-3654СоколоваЕ. С.SokolovaE. S.https://orcid.org/0000-0002-0025-8656КунгурцеваА. Г.KungurtsevaA. G.ФГБОУ ВО «Омский государственный медицинский университет» Министерства здравоохранения Российской Федерации; БУЗ Омской области «Областная детская клиническая больница»РоссияOmsk State Medical University; Children’s Clinical HospitalRussian FederationФГБОУ ВО «Омский государственный медицинский университет» Министерства здравоохранения Российской ФедерацииРоссияOmsk State Medical UniversityRussian FederationБУЗ Омской области «Областная детская клиническая больница»РоссияChildren’s Clinical HospitalRussian Federation202521112025315361Copyright © Дакуко А.Н., Соболева А.Ю., Павлинова Е.Б., Соколова Е.С., Кунгурцева А.Г., 20252025Дакуко А.Н., Соболева А.Ю., Павлинова Е.Б., Соколова Е.С., Кунгурцева А.Г.Dakuko A.N., Soboleva A.Y., Pavlinova E.B., Sokolova E.S., Kungurtseva A.G.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nikid.ru/jour/article/view/141

Синдром Гурлера — это наиболее тяжелая форма метаболического генетического заболевания, мукополисахаридоза типа I (МПС I), вызываемого мутацией гена IDUA, который кодирует фермент α-L-идуронидазу. Несмотря на относительную редкость этой патологии, вопросы своевременной диагностики приобретают большое значение. Среди существующих методов лечения МПС I выделяют ферментозаместительную терапию (ФЗТ) и аллогенную трансплантацию гемопоэтических стволовых клеток (ТГСК). В практике широко используются препараты для внутривенной ФЗТ, такие как ларонидаза; однако при синдроме Гурлера их эффективность ограничена. Эти препараты не способны преодолеть гематоэнцефалический барьер (ГЭБ), что мешает предотвращению прогрессирования неврологических нарушений. В этом случае «золотым стандартом» лечения считается ТГСК. Тем не менее этот метод связан с рядом возможных осложнений, поэтому оптимальным временем его начала считается возраст до 2 лет, когда еще не развилась выраженная клиническая картина заболевания. Раннее проведение ТГСК способствует лучшему сохранению когнитивных функций и уменьшению соматических проявлений. Однако даже своевременное лечение не гарантирует полного избавления от тяжелых последствий болезни. Это подчеркивает необходимость поиска новых стратегий для повышения эффективности терапии, а также развития методов раннего скрининга и использования генно-инженерных технологий. Генная терапия (ГТ) представляется перспективным подходом к лечению МПС, так как она может обеспечить постоянное восполнение дефицитного фермента.

Hurler syndrome is the most severe form of mucopolysaccharidosis type I (MPS I). This is a metabolic genetic disorder caused by mutations in the IDUA gene, which encodes the α-L-iduronidase enzyme. Despite its rarity, timely diagnosis is critical. Current treatments for MPS I include enzyme replacement therapy (ERT) and allogeneic hematopoietic stem cell transplantation (HSCT). Intravenous ERT, such as laronidase, although being widely used, exhibits limited effectiveness due to its inability to cross the blood–brain barrier, thus failing to halt neurological deterioration. HSCT remains the gold standard, particularly when performed before age 2, prior to developing severe clinical manifestations. Early HSCT allows better preservation of cognitive functions and mitigation of somatic symptoms, although carrying risks of complications and not guaranteeing complete recovery. These limitations underscore the need for innovative strategies, including improved early screening methods and genetic engineering technologies. Gene therapy (GT) is a promising approach, having the potential for sustained enzyme production to address the underlying deficiency.

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