vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v19i2.2106vsp-2379Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSТрудности диагностики легких форм мукополисахаридоза I типа: клинические наблюденияDiagnostic Difficulties of Mucopolysaccharidosis Type I Mild Forms: Clinical Caseshttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Вашакмадзе Нато Джумберовна - доктор медицинских наук, профессор кафедры факультетской педиатрии педиатрического факультета РНИМУ им. Н.И. Пирогова.

117997, Москва, ул. Островитянова, д. 1.

Moscow.

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

Москва.

Moscow.

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

Moscow.

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

Moscow.

ВоскобаеваЕ. Ю.VoskobaevaElena J.

Moscow.

БабайкинаМ. А.BabaikinaMarina A.

Moscow.

МихайловаЛ. К.MikhaylovaLyudmila M.

Moscow.

Российский национальный исследовательский медицинский университет им. Н.И. Пирогова; Центральная клиническая больница Российской академии наукРоссияPirogov Russian National Research Medical University; Central Clinical Hospital of the Russian Academy of SciencesRussian FederationНациональный медицинский исследовательский центр здоровья детейРоссияNational Medical Research Center for Children's HealthRussian FederationМедико-генетический научный центр им. академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationЦентральная клиническая больница Российской академии наукРоссияCentral Clinical Hospital of the Russian Academy of SciencesRussian FederationКонсультативно-диагностический центр Национального медицинского исследовательского центра травматологии и ортопедии им. И.М. ПриороваРоссияConsultative and Diagnostic Center of National Medical Research Center of Traumatology and Orthopedics n.a. N.N. PriorovRussian Federation202021062020192132141Copyright © Вашакмадзе Н.Д., Намазова-Баранова Л.С., Журкова Н.В., Захарова Е.Ю., Воскобаева Е.Ю., Бабайкина М.А., Михайлова Л.К., 20202020Вашакмадзе Н.Д., Намазова-Баранова Л.С., Журкова Н.В., Захарова Е.Ю., Воскобаева Е.Ю., Бабайкина М.А., Михайлова Л.К.Vashakmadze N.D., Namazova-Baranova L.S., Zhurkova N.V., Zakharova E.Y., Voskobaeva E.J., Babaikina M.A., Mikhaylova L.M.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/2379

К легким формам мукополисахаридоза I типа относятся синдромы Шейе и Гурлер-Шейе, которые характеризуются медленным прогрессированием, сохранным интеллектом и поражением преимущественно органа зрения, опорнодвигательной и сердечно-сосудистой систем. Ранняя диагностика, мультидисциплинарный подход к обследованию и наблюдению, а также своевременно назначенная терапия играют важную роль для сохранения качества жизни пациентов, профилактики развития осложнений и ранней инвалидизации. В статье приведены обзор опубликованных данных и описание 3 случаев легкого течения мукополисахаридоза I типа.

Mucopolysaccharidosis type I mild forms include Scheie syndrome and Hurler-Scheie syndrome that are characterized by slow progression, intact intelligence, and primarily effect on visual organ, musculoskeletal and cardiovascular systems. Early diagnostics, multidisciplinary approach to examination and monitoring, timely management are crucial in maintenance of patients' quality of life, preventing complications development and early disability. The article provides the overview of published data and description of 3 clinical cases with mild course of mucopolysaccharidosis type I.

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