vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v25i4.3085vsp-4094Research ArticleОРИГИНАЛЬНАЯ СТАТЬЯORIGINAL ARTICLESКлинико-эпидемиологическая характеристика пациентов с мукополисахаридозом II типа (синдром Хантера) по данным Российского регистраClinical and Epidemiological Characteristics of Patients with Mucopolysaccharidosis Type II (Hunter Syndrome) According to Data from the Russian Registryhttps://orcid.org/0000-0002-2335-3023БучинскаяН. В.BuchinskaiaNatalia V.

Бучинская Наталья Валерьевна - кандидат медицинских наук, врач-генетик консультативного отделения Диагностического центра (медико-генетического), ассистент кафедры госпитальной педиатрии Санкт-Петербургского ГПМУ

194044, Санкт-Петербург, ул. Тобольская, д. 5, тел.: +7 (812) 241-24-84

St. Petersburg

nbuchinskaia@gmail.comhttps://orcid.org/0000-0002-1252-1968ЛязинаЛ. В.LiazinaLidia V.

Санкт-Петербург

St. Petersburg

https://orcid.org/0009-0004-8775-9630ВечкасоваА. О.VechkasovaAnastasia O.

Санкт-Петербург

St. Petersburg

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.

Москва

Moscow

https://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

НиконовА. М.NikonovAleksandr M.

Барнаул

Barnaul

КуриловаВ. И.KurilovaVera I.

Пермь

Perm

https://orcid.org/0000-0002-9094-1714МаксимоваЮ. В.MaximovaYulia V.

Новосибирск

Novosibirsk

https://orcid.org/0009-0009-3750-9461АксяноваХ. Ф.AksyanovaKhasyania F.

Нижний Новгород

Nizhny Novgorod

https://orcid.org/0000-0002-0999-5169БакулинаЕ. Г.BakulinaElena G.

Ставрополь

Stavropol

https://orcid.org/0000-0002-9134-5826КононенкоН. И.KononenkoNina I.

Курск

ОсиповаЕ. В.OsipovaElena V.

Ижевск

ВафинаЗ. И.VafinaZulfia I.

Казань

https://orcid.org/0000-0003-4636-5825ЧиковаИ. А.ChikovaIrina A.

Санкт-Петербург

St. Petersburg

https://orcid.org/0000-0002-1568-3217КоротеевА. Л.KoroteevAlexandr L.

Санкт-Петербург

St. Petersburg

https://orcid.org/0000-0002-1180-8086КостикМ. М.KostikMikhail M.

Санкт-Петербург

St. Petersburg

https://orcid.org/0000-0002-0060-4168ИвановД. О.IvanovDmitry O.

Санкт-Петербург

St. Petersburg

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Москва, Шэньчжэнь

Moscow, Shenzhen

https://orcid.org/0000-0002-5020-1180ЗахароваЕ. Ю.ZakharovaEkaterina Yu.

Москва

Moscow

https://orcid.org/0000-0002-3133-8018КуцевС. И.KutsevSergei I.

Москва

Moscow

Диагностический центр (медико-генетический); Санкт-Петербургский государственный педиатрический медицинский университетРоссияDiagnostic Center (Medical Genetics); St. Petersburg State Pediatric Medical UniversityRussian FederationДиагностический центр (медико-генетический)РоссияDiagnostic Center (Medical Genetics)Russian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Российский национальный исследовательский медицинский университет им. Н.И. Пирогова (Пироговский Университет)РоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical UniversityRussian FederationКонсультативно-диагностический центр Алтайского краяРоссияConsultative Diagnostic Center of the Altai TerritoryRussian FederationКраевая детская клиническая больницаРоссияPerm Regional Children’s Clinical HospitalRussian FederationНовосибирский государственный медицинский университетРоссияNovosibirsk State Medical UniversityRussian FederationНижегородская областная детская клиническая больницаРоссияNizhny Novgorod Regional Children’s Clinical HospitalRussian FederationСтавропольский краевой клинический консультативно-диагностический центрРоссияStavropol Regional Clinical Consultative and Diagnostic CenterRussian FederationКурская областная многопрофильная клиническая больницаRussian FederationПервая Республиканская клиническая больницаRussian FederationРеспубликанская клиническая больницаRussian FederationСанкт-Петербургский государственный педиатрический медицинский университетРоссияSt. Petersburg State Pediatric Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Российский национальный исследовательский медицинский университет им. Н.И. Пирогова (Пироговский Университет); Университет МГУ-ППИ в ШэньчжэнеРоссияPediatrics and Child Health Research Institute in Petrovsky National Research Centre of Surgery; Pirogov Russian National Research Medical University; Shenzhen MSU-BIT UniversityRussian FederationМедико-генетический центр им. акад. Н.П. БочковаРоссияResearch Center for Medical GeneticsRussian Federation202610102026254232247Copyright © Бучинская Н.В., Лязина Л.В., Вечкасова А.О., Журкова Н.В., Вашакмадзе Н.Д., Никонов А.М., Курилова В.И., Максимова Ю.В., Аксянова Х.Ф., Бакулина Е.Г., Кононенко Н.И., Осипова Е.В., Вафина З.И., Чикова И.А., Коротеев А.Л., Костик М.М., Иванов Д.О., Намазова-Баранова Л.С., Захарова Е.Ю., Куцев С.И., 20262026Бучинская Н.В., Лязина Л.В., Вечкасова А.О., Журкова Н.В., Вашакмадзе Н.Д., Никонов А.М., Курилова В.И., Максимова Ю.В., Аксянова Х.Ф., Бакулина Е.Г., Кононенко Н.И., Осипова Е.В., Вафина З.И., Чикова И.А., Коротеев А.Л., Костик М.М., Иванов Д.О., Намазова-Баранова Л.С., Захарова Е.Ю., Куцев С.И.Buchinskaia N.V., Liazina L.V., Vechkasova A.O., Zhurkova N.V., Vashakmadze N.D., Nikonov A.M., Kurilova V.I., Maximova Y.V., Aksyanova K.F., Bakulina E.G., Kononenko N.I., Osipova E.V., Vafina Z.I., Chikova I.A., Koroteev A.L., Kostik M.M., Ivanov D.O., Namazova-Baranova L.S., Zakharova E.Y., Kutsev S.I.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/4094Обоснование

Обоснование. Исследование проведено на основании данных российского регистра пациентов с мукополисахаридозом (МПС) II типа. Ранее аналогичные работы, основанные на анализе данных национального регистра МПС в Российской Федерации, не проводились.

Цель исследования — провести комплексный анализ эпидемиологии и фенотипических особенностей МПС II типа у российских пациентов с использованием данных национального регистра, а также сравнить полученные результаты с аналогичными данными зарубежных регистров.

Методы

Методы. В ретроспективное одномоментное наблюдательное исследование включены сведения о 177 пациентах с установленным диагнозом МПС II типа. Анализировались данные анамнеза, показатели клинических, лабораторных и инструментальных обследований, а также информация о ферментозаместительной терапии (ФЗТ) за период с 2008 по март 2026 г.

Результаты

Результаты. Распространенность МПС II типа в Российской Федерации составила 0,1 на 100 тыс. населения, частота — 0,54 на 100 тыс. живорожденных (примерно 1 на 185 тыс. живорожденных). Территориальное распределение пациентов носит неравномерный характер. Медиана возраста появления первых симптомов составила 1,0 (0; 2,0) год, диапазон — от первых месяцев жизни до 23 лет; медиана возраста установления диагноза — 3,0 (2,0; 6,0) года, диапазон — от 0,1 до 38,9 года. Основные симптомы МПС II типа у детей на момент установления диагноза включали нарушения со стороны опорно-двигательного аппарата (99,1%), Гурлер-фенотип (96,4%), короткую шею (88,8%), гепатомегалию по данным физикального осмотра (91,9%) и по данным ультразвукового исследования органов брюшной полости (87,7%), пупочные и паховые грыжи (82,1%), поражение сердечно-сосудистой системы (80,3%), деформацию грудной клетки (80,3%), контрактуры суставов кистей (74,5%), поражение ЛОР-органов (62,4%). На момент среза данных жив 151 (85,3%) пациент. ФЗТ получали 140 из 160 (87,5%) пациентов с МПС II типа. Выявлены частые варианты в гене IDS, характерные для российской популяции: рекомбинация IDS/ps IDS2 ex3/int7, аминокислотные замены p.Gly374=, p.Arg468Gln, p.Ala85Thr, p.Pro86Leu и p.Arg443Ter.

Заключение

Заключение. Показатели распространенности МПС II типа в Российской Федерации сопоставимы с данными международных регистров. Регистровый подход обеспечивает возможность динамического анализа клинической картины заболевания, оценки эффективности терапии и планирования ресурсов здравоохранения. Дальнейшее расширение клинической части регистра, регулярное обновление данных и интеграция с международными регистровыми платформами необходимы для проведения углубленных исследований и получения более полной информации о пациентах с орфанными заболеваниями.

Background

Background. The study was conducted based on data from the Russian registry of patients with mucopolysaccharidosis (MPS) type II. There are no similar studies based on analysis of data from the national MPS registry in Russian Federation.

Objective

Objective. The aim of the study is to conduct a comprehensive analysis of MPS type II epidemiology and phenotypic features in Russian patients using data from the national registry, as well as to compare the obtained results with corresponding data from international registries.

Methods

Methods. The retrospective, cross-sectional observational study included data from 177 patients with confirmed diagnosis of MPS type II. Data on medical history, clinical, laboratory, and instrumental examination methods, as well as data on enzyme replacement therapy (ERT) over the period from 2008 to March 2026 was analyzed.

Results

Results. The prevalence of MPS type II in Russian Federation was 0.1 per 100,000 population, and 0.54 per 100,000 live births (approximately 1 in 185,000 live births). The geographical distribution of patients was uneven. The median age of first symptoms was 1.0 (0; 2.0) years, the range — from the first months of life to 23 years, and the median age of established diagnosis was 3.0 (2.0; 6.0) years, the range — from 0.1 to 38.9 years. The major symptoms of MPS type II in children at the time of diagnosis included musculoskeletal disorders (99.1%), Hurler phenotype 96.4%, short neck was detected in 88.8%, hepatomegaly (based on physical examination findings) in 91.9% of patients, according to abdominal ultrasound data in 87.7% patients, umbilical and inguinal hernias in 82.1% of patients, cardiovascular damage — in 80.3%, chest deformity — 80.3%, contractures of the hand joints (74.5%), and ENT manifestations (62.4%). 151 (85.3%) patients were alive at the time of data collection. ERT was administered to 140 out of 160 (87.5%) patients with MPS type II. Frequent variants in the IDS gene typical for the Russian population were revealed: recombination IDS/ps IDS2 ex3/int7, variants p.Gly374=, p.Arg468Gln, p.Ala85Thr, p.Pro86Leu and p.Arg443Ter.

Conclusion

Conclusion. The prevalence of MPS type II in Russian Federation is comparable to data from international registries. The registry-based approach enables the dynamic analysis of the disease’s clinical signs, treatment efficacy evaluation, and planning of healthcare resources. Further expansion of clinical part of the registry, regular data updates, and integration with international registry platforms are crucial for in-depth research and for obtaining more comprehensive data on patients with orphan diseases.

российский регистрмукополисахаридоз II типасиндром Хантераэпидемиологияклиникаферментозаместительная терапияRussian registrymucopolysaccharidosis type IIHunter syndromeepidemiologyclinical featuresenzyme replacement therapyАвторы выражают слова благодарности всем врачам-генетикам, ответственным в регионах страны за наблюдение пациентов с МПС II типа и внесение данных в регистр. Авторы также благодарят АО «Астон Консалтинг» за техническую организацию и сопровождение исследованияThe authors express their gratitude to all medical geneticists responsible for the follow-up of patients with MPS type II and for entering data into the registry in the regions of the country. The authors also thank Aston Consulting JSC for the technical organization and support of the studyReferencesMichaud M, Belmatoug N, Catros F, et al. Mucopolysaccharidoses: quand y penser? Rev Med Interne. 2020;41(3):180–188. doi: https://doi.org/10.1016/j.revmed.2019.11.010Michaud M, Belmatoug N, Catros F, et al. 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The authors declare that there are no conflicts of interest present.