nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.17650/2311-1267-2018-5-1-44-54nodgo-358Research ArticleОригинальные исследованияГенерализованный остеопетроз: показания, эффективность и особенности трансплантации гемопоэтических стволовых клеток (собственный опыт)Generalized osteopetrosis: indications, efficacy and peculiarities of hematopoietic stem cell transplantation (own experience)БуряА. Е.BuryaA. E.

Александра Евгеньевна Буря 

117997, Москва, Ленинский просп., 117

burya.a.e@gmail.comКиргизовК. И.KirgizovK. I.КондрашоваЗ. А.KondrashovaZ. A.ПристансковаЕ. А.PristanskovaE. A.МихайловаС. В.MikhailovaS. V.СкоробогатоваЕ. В.SkorobogatovaE. V.ФГБУ «Российская детская клиническая больница» Минздрава РоссииРоссияRussian Children’s Clinical Hospital, Ministry of Health of RussiaRussian FederationФГБУ «Российская детская клиническая больница» Минздрава России; ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России; ФГБНУ «Медико-генетический научный центр»РоссияRussian Children’s Clinical Hospital, Ministry of Health of Russia; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia; Medical Genetics Research CenterRussian FederationФГБУ «Российская детская клиническая больница» Минздрава России; ФГБНУ «Медико-генетический научный центр»РоссияRussian Children’s Clinical Hospital, Ministry of Health of Russia; Medical Genetics Research CenterRussian Federation201820022018514454Copyright © Буря А.Е., Киргизов К.И., Кондрашова З.А., Пристанскова Е.А., Михайлова С.В., Скоробогатова Е.В., 20182018Буря А.Е., Киргизов К.И., Кондрашова З.А., Пристанскова Е.А., Михайлова С.В., Скоробогатова Е.В.Burya A.E., Kirgizov K.I., Kondrashova Z.A., Pristanskova E.A., Mikhailova S.V., Skorobogatova E.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/358

Генерализованный остеопетроз (ГО) – это редкое наследственное заболевание, характеризующееся системным склерозированием костей скелета, нарушением костно-мозгового кроветворения и, как следствие, развитием тяжелой анемии, очагов экстрамедуллярного кроветворения в различных паренхиматозных органах. Проблема ГО актуальна и для Российской Федерации. Радикальным методом терапии является аллогенная трансплантация гемопоэтических стволовых клеток (алло-ТГСК). В статье приведен опыт лечения пациентов с ГО в отделении трансплантации костного мозга РДКБ.

В период с 2010 по 2017 г. алло-ТГСК выполнена 6 пациентам с аутосомно-рецессивной формой ГО. Медиана возраста – 5,5 года (1–11 лет). Алло-ТГСК выполнялась с использованием миелоаблативного режима кондиционирования с включением препаратов треосульфан, флударабин и мелфалан. Восстановление донорского лейкопоэза было зафиксировано у 5 из 6 пациентов. У 1 больного, реципиента пуповинной крови, восстановления донорского лейкопоэза не произошло. В раннем посттрансплантационном периоде тяжелых токсических осложнений зафиксировано не было. У 1 пациента была зафиксирована реакция «трансплантат против хозяина», кожная форма I степени. У 5 больных через 2–5 мес после ТГСК отмечалась гиперкальциемия, купированная введением бисфосфонатов. Один пациент с нейродегенеративной формой болезни умер в раннем посттрансплантационном периоде на фоне нарастания гидроцефально-гипертензионного синдрома (у него был зафиксирован донорский гемопоэз). У 4 пациентов с успешной алло-ТГСК длительность наблюдения составила от 5 до 42 мес (медиана – 26 мес). После ТГСК у больных отмечается полное восстановление гемопоэза, частичная коррекция деформации черепа, ускорение темпов роста длины тела.

Таким образом, алло-ТГСК является эффективным методом системного контроля заболевания. Поражение центральной нервной системы не корригируется алло-ТГСК, что требует как можно более ранней диагностики и начала радикальной терапии до наступления тяжелой инвалидизации. 

Generalized osteopetrosis is a rare hereditary disease characterized by systemic sclerosis of the bones of the skeleton, disorder of bone marrow hematopoiesis and, as a consequence, development of severe anemia and appearance of extramedullary hematopoiesis foci in various parenchymal organs. The problem of osteopetrosis is also relevant for the Russian Federation. A radical approach is the allogeneic hematopoietic stem cells transplantation (allo-HSCT). The article presents the experience of treating patients with osteopetrosis in the department of bone marrow transplantation of the Russian Children Clinical Hospital (RCCH).

In the period from 2010 to 2017 allo-HSCT was performed in 6 patients with autosomal recessive form of osteopetrosis. The median age was 5.5 years (1–11 years). Allo-HSCT was performed using the myeloablative regimen of conditioning with treosulfan, fludarabine and melphalan. Reconstitution of donor leukopoiesis was recorded in 5 of 6 patients. In 1 patient, a recipient of umbilical cord blood, there was no reconstitution of donor leukopoiesis. In the early posttransplant period, severe toxic complications were not recorded. One patient had a graft-versus-host reaction, a cutaneous form, I degree. In 5 patients, hypercalcemia was observed in 2–5 months after HSCT, relieved by the admission of bisphosphonates. One patient with a neurodegenerative form of the disease died in the early posttransplant period during deterioration of a hydrocephalic-hypertensive syndrome (donor hematopoiesis was confirmed). In 4 patients with successful allo-HSCT, the follow-up period was from 5 to 42 months (median – 26 months). All patients have complete hematologic recovery, partial correction of the skull deformity, acceleration of growth rates of the body length.

Thus, allo-HSCT is an effective method of systemic disease control. The defeat of the central nervous system is not corrected by allo-HSCT, which requires earlier diagnosis and the initiation of radical therapy before the onset of severe disability. 

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