nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.17650/2311-1267-2014-0-3-20-35nodgo-35Research ArticleПрогресс в детской гематологии-онкологии в XXI векеАнемия Даймонда–Блекфана: модель трансляционного подхода к пониманию заболеваний у людейDiamond Blackfan anemia: a model for the translational approach to understanding human diseaseВлахосАдрианнаVlachosA.

Манхассет, Нью-Йорк, США

Manhasset, NY, USA

avlachos@nshs.eduБланкЛ.BlancL.

Хемпстед, Нью-Йорк, США

Hempstead, NY, USA

ЛиптонДж. М.LiptonJ. M.

Отдел гематологии/онкологии и трансплантации стволовых клеток, Нью-Гайд-Парк, Нью-Йорк, США

Division of Hematology / Oncology and Stem Cell Transplantation,

New Hyde Park, NY, USA

Медицинский исследовательский институт ФейнштейнаСоединённые Штаты АмерикиFeinstein Institute for Medical ResearchUnited StatesШкола медицины университета В.С. ХофстраСоединённые Штаты АмерикиHofstra North Shore-LIJ School of MedicineUnited StatesДетский медицинский центр Стивена и Александры КоэнСоединённые Штаты АмерикиSteven and Alexandra Cohen Children’s Medical CenterUnited States201402042015032035Copyright © Влахос А., Бланк Л., Липтон Д.М., 20152015Влахос А., Бланк Л., Липтон Д.М.Vlachos A., Blanc L., Lipton J.M.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/35

Анемия Даймонда–Блекфана (АДБ) является врожденным синдромом костномозговой недостаточности. Как и в случае с другими редкими врожденными синдромами костномозговой недостаточности, это заболевание дает важные представления о биологии (а в случае с АДБ – о биологии рибосом), нарушение которой характерно для данного недуга. Таким образом, АДБ формирует парадигму развития трансляционной медицины, с помощью которой клиницисты обращаются к представителям науки для разработки способов лечения данного заболевания, а те, в свою очередь, способствуют клиническому применению открытий для улучшения результатов лечения. В данном обзоре мы расскажем об АДБ как клиническом синдроме и, в частности, продемонстрируем, как изучение АДБ позволило ученым сформировать возможности дальнейшего прогресса в понимании этого заболевания и его лечении.

Авторы перевода

Авторы перевода: К. И. Киргизов, Т. В. Шаманская

 

 

Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the other rare inherited bone marrow failure syndromes, the study of these disorders provides important insights into basic biology and, in the case of DBA, ribosome biology; the disruption of which characterizes the disorder. Thus DBA serves as a paradigm for translational medicine in which the efforts of clinicians to manage DBA have informed laboratory scientists who, in turn, have stimulated clinical researchers to utilize scientific discovery to provide improved care.

In this review we describe the clinical syndrome Diamond Blackfan anemia and, in particular, we demonstrate how the study of DBA has allowed scientific inquiry to create opportunities for progress in its understanding and treatment.

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