OncohematologyOncohematologyОнкогематология1818-83462413-4023Publishing House ABV Press5410.17650/1818-8346-2012-7-3-49-54RARE DISEASES AND MODERN TREATMENT APPROACHESРЕДКИЕ БОЛЕЗНИ И СОВРЕМЕННЫЕ ВОЗМОЖНОСТИ ТЕРАПИИTreatment of paroxysmal nocturnal hemoglobinuriaЛечение пароксизмальной ночной гемоглобинурииLisukovI. A.ЛисуковИ. А.
Russian Federation
igor_lisukov@mail.ruKulaginA. D.КулагинА. Д.
Russian Federation
AfanasyevB. V.АфанасьевБ. В.
Russian Federation
Raisa Gorbacheva Memorial Institute of Children Hematology and Transplantation, Pavlov State Medical University of St.-Petersburg, Ministry of Health of RussiaИнститут детской гематологии и трансплантологии им. Р.М. Горбачевой Санкт‑Петербургского государственного медицинского университета им. акад. И.П. Павлова Минздрава России2208201273495422072014220720142012https://oncohematology.abvpress.ru/ongm/article/view/54

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life‑threatening clonal hematological disorder caused by an acquired mutation in the phosphatidylinositol glucan (PIG)-A gene. PNH is characterized by chronic intravascular hemolysis, marrow failure, thrombophilia and other severe clinical syndromes. Until recently, the treatment of PNH has been symptomatic with blood transfusions, anticoagulation and supplementation with folic acid or iron. The only potentially curative treatment is allogeneic stem cell transplantation, but this has severe complications with high mortality rates. A new targeted treatment strategy is the inhibition of the terminal complement cascade with anti‑C5 monoclonal antibody (eculizumab). Eculizumab has shown significant efficacy in controlling of intravascular hemolysis resulting in improving quality of life and survival.

Пароксизмальная ночная гемоглобинурия (ПНГ) является редким жизнеугрожающим клональным заболеванием крови, в основе которого лежит приобретенная мутация гена, кодирующего якорный белок фосфатидилинозитол класса А (PIG‑A). ПНГ характеризуется хроническим внутрисосудистым гемолизом, костномозговой недостаточностью, тромбофилией и другими тяжелыми клиническими синдромами. До настоящего времени лечение ПНГ оставалось симптоматическим: гемотрансфузии, антикоагулянтная терапия, препараты железа, фолиевая кислота. Единственным подходом, при котором возможно выздоровление при ПНГ, служит аллогенная трансплантация костного мозга, однако данная процедура сопряжена с тяжелыми осложнениями и высокой летальностью. Новой таргетной терапией ПНГ является подавление активации компонентов терминального комплекса системы комплемента с помощью моноклонального антитела против компонента комплемента C5 (экулизумаб). Экулизумаб показал высокую эффективность в контролировании внутрисосудистого гемолиза, что приводит к улучшению качества жизни и выживаемости больных ПНГ.

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