vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v20i6S.2369vsp-2776Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSРанняя диагностика и результаты ферментной заместительной терапии у больного с мукополисахаридозом VI типа: клинический случайEarly Diagnosis and Results of Enzyme Replacement Therapy in the Patient with Mucopolysaccharidosis Type VI: Clinical CaseИвановД. В.IvanovDmitry V.

Иванов Дмитрий Владимирович, заведующий педиатрическим отделением 

198205, Санкт-Петербург, ул. Авангардная, д. 14, лит. А 

Saint Petersburg

idv68@list.ruОструнА. И.OstrunAnna I.

Санкт-Петербург

Saint Petersburg

https://orcid.org/0000-0002-7651-8485КенисВ. М.KenisVladimir M.

Санкт-Петербург

Saint Petersburg

https://orcid.org/0000-0002-2672-6294МарковаТ. В.MarkovaTatiana V.

Москва

Moscow

https://orcid.org/0000-0001-7938-7196ЗахароваЕ. Ю.ZakharovaEkaterina Yu.

Москва

Moscow

Детский городской многопрофильный клинический специализированный центр высоких медицинских технологийРоссияChildren’s City Multidisciplinary Clinical Specialized Center of High Medical TechnologiesRussian FederationНациональный медицинский исследовательский центр детской травматологии и ортопедии им. Г.И. ТурнераРоссияH. Turner National Medical Research Center for Сhildren’s Orthopedics and Trauma SurgeryRussian FederationМедико-генетический научный центр имени академика Н.П. БочковаРоссияMedical Genetic Research Center named after N.P. BochkovRussian Federation202116122021206s602610Copyright © Иванов Д.В., Острун А.И., Кенис В.М., Маркова Т.В., Захарова Е.Ю., 20212021Иванов Д.В., Острун А.И., Кенис В.М., Маркова Т.В., Захарова Е.Ю.Ivanov D.V., Ostrun A.I., Kenis V.M., Markova T.V., Zakharova E.Y.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/2776Обоснование

Обоснование. Мукополисахаридоз VI типа (МПС VI, синдром Марото–Лами) — редкое аутосомно-рецессивное мультисистемное заболевание из группы лизосомных болезней накопления. Патогенез МПС VI обусловлен дефицитом фермента арилсульфатазы B, вызванным нарушениями в структуре гена ARSB. Опубликовано лишь несколько клинических примеров болезни с описанием результатов ферментной заместительной терапии (ФЗТ), начатой в раннем возрасте.

Описание клинического случая. В возрасте 1,5 мес у ребенка заподозрена лизосомная болезнь накопления на основании данных микроскопического анализа мазков крови, в которых была обнаружена аномалия Альдера (зернистость и включения красно-фиолетового цвета в цитоплазме нейтрофилов, моноцитов, лимфоцитов). Диагноз был подтвержден в возрасте 3 мес: обнаружены повышенная концентрация гликозаминогликанов (ГАГ) в моче, снижение активности арилсульфатазы В в пятнах высушенной крови и патогенный вариант c.943C>T (р.R315X) гена ARSB в гомозиготном состоянии. ФЗТ препаратом галсульфаза начата в возрасте 7 мес. Через 9 и 15 мес терапии отмечено снижение экскреции ГАГ с мочой до нормального уровня. Через 3 года непрерывной ФЗТ определены нормальные для возраста пациента рост и пропорции тела. Вместе с тем, отмечено прогрессирование множественного дизостоза и тугоподвижности суставов, а также поражение органа зрения.

Заключение

Заключение. Раннее начало ФЗТ не может полностью остановить прогрессирование МПС VI, но позволяет снизить выраженность ряда симптомов болезни и повышает качество жизни пациента.

Background

Background. Mucopolysaccharidosis type VI (MPS VI, Maroteaux–Lamy syndrome) is rare autosomal-recessive multisystem disease, one of the group of lysosomal storage diseases. The MPS VI pathogenesis is determined by arylsulfatase B enzyme deficiency caused by mutations in the ARSB gene. There are only few published clinical examples of this disease that covers the results of early enzyme replacement therapy (ERT) onset.

Clinical case description. The child was suspected to have lysosomal storage disease at the age of 1.5 months, it was based on microscopic analysis of blood smears: Alder abnormality was revealed (granulations and red-violet inclusions in neutrophils, monocytes, lymphocytes cytoplasm). The diagnosis was confirmed at the age of 3 months: increased glycosaminoglycans (GAGs) concentration in the urine, arylsulfatase B activity decrease in dried blood spots, and pathogenic variant c.943C>T (p. R315X) in the ARSB gene in homozygous state were revealed. ERT with galsulfase was started at the age of 7 months. There was decrease in excretion of GAGs in urine to normal level after 9 and 15 months of therapy. Normal growth and body proportions for the patient’s age were determined 3 years after continuous ERT. However, there was progression of multiple dysostosis and joint stiffness, as well as eyes lesion.

Conclusion

Conclusion. Early ERT onset cannot completely stop MPS VI progression but it allows to reduce the severity of several symptoms and improves patient’s quality of life.

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