Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children21110.24287/1726-1708-2018-17-4-35-42ORIGINAL ARTICLESОРИГИНАЛЬНЫЕ СТАТЬИMucopolysaccharidosis I type: new managementМукополисахаридоз I типа: современные подходы к терапииhttps://orcid.org/0000-0002-2115-985XMikhaylovaS. V.МихайловаС. В.
Russian Federation

 MD, prof., Chief of the department of Medical Genetic, Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University Ministry of Healthcare of Russian Federation. 

119571, Moscow, Leninsky pr., 117. 

д-р мед. наук, зав. отделом генетики, проф. кафедры молекулярной генетики и клеточных технологий  РНИМУ.

119571 Москва, ГСП-7, Ленинский пр-кт, 117. 

svetychvital@mail.ruhttps://orcid.org/0000-0003-0815-9051SlateckayA. N.СлатецкаяА. Н.
Russian Federation
https://orcid.org/0000-0002-4569-657XPristanskovaE. A.ПристансковаЕ. А.
Russian Federation
https://orcid.org/0000-0002-2945-284XKirgizovK. I.КиргизовК. И.
Russian Federation
MendelevichO. V.МенделевичО. В.
Russian Federation
https://orcid.org/0000-0002-7595-9860ZazhivikhinaM. V.ЗаживихинаМ. В.
Russian Federation
https://orcid.org/0000-0003-0373-3827VoroncovaV. P.ВоронцоваВ. П.
Russian Federation
https://orcid.org/0000-0002-5020-1180ZakharovaE. Yu.ЗахароваЕ. Ю.
Russian Federation
https://orcid.org/0000-0002-6210-0280KamenecE. A.КаменецЕ. А.
Russian Federation
https://orcid.org/0000-0002-1713-5118VoskoboevaE. Yu.ВоскобоеваЕ. Ю.
Russian Federation
TatarovaI. N.ТатароваИ. Н.
Russian Federation
https://orcid.org/0000-0002-4252-8829DonushE. K.ДонюшЕ. К.
Russian Federation
https://orcid.org/0000-0001-8398-6829YurasovaYu. B.ЮрасоваЮ. Б.
Russian Federation
https://orcid.org/0000-0002-0265-5778BologovA. A.БологовА. А.
Russian Federation
https://orcid.org/0000-0003-4431-1444SkorobogatovaE. V.СкоробогатоваЕ. В.
Russian Federation
Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University Ministry of Healthcare of Russian FederationРоссийская детская клиническая больница ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииMedical Genetics Research CenterФГБНУ «Медико-генетический научный центр» РАНRussian National Research Medical University named after N.I. Pirogov.ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России.Russian Children's Clinical Hospital of Pirogov Russian National Research Medical University Ministry of Healthcare of Russian Federation.Российская детская клиническая больница ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России.Medical Genetics Research Center.ФГБНУ «Медико-генетический научный центр» РАН.1301201917435421201201912012019Copyright ©; 2019, «D. Rogachev NMRCPHOI»Copyright ©; 2019, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2019«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/211

Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2–2.5 years of age, having a high rate of success. Enzyme replacement therapy (ERT) with human recombinant laronidase has also been demonstrated to be effective in ameliorating the clinical conditions of pre-transplant MPS I-H patients and in improving HSCT outcome, by peri-transplant co-administration. Nevertheless the long-term clinical outcome even after successful HSCT varies considerably, with a persisting residual disease burden. This review will focus on all these critical issues related to the management of MPS I-H.

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