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Дефицит пируваткиназы и несфероцитарная гемолитическая анемия

https://doi.org/10.24287/1726-1708-2020-19-3-121-130

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Аннотация

Обзор посвящен одному из основных регуляторных ферментов гликолиза в эритроцитах – пируваткиназе, дефицит которого часто является причиной наследственной несфероцитарной гемолитической анемии. Рассмотрены строение и функция пируваткиназы, известные на сегодняшний день мутации гена этого фермента. Авторы провели анализ связи генетических аномалий с нарушением функции фермента и тяжестью клинических проявлений.

Об авторах

Е. А. Бовт
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России; ФГБУН «Центр теоретических проблем физико-химической фармакологии» РАН
Россия

лаборант-исследователь лаборатории биофизики;

аспирантка лаборатории физиологии и биофизики клетки,

117997, Москва, ул. Саморы Машела, 1 



Л. Д. Колева
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России; ФГБУН «Центр теоретических проблем физико-химической фармакологии» РАН
Россия
Москва


Е. А. Черняк
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия
Москва


Д. С. Прудинник
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия
Москва


Ф. И. Атауллаханов
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России; ФГБУН «Центр теоретических проблем физико-химической фармакологии» РАН; ФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова»; ФГАОУ ВО «Московский физико-технический институт (национальный исследовательский университет)»
Россия

Москва;

Московская область, Долгопрудный



Н. С. Сметанина
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России
Россия
Москва


Е. И. Синауридзе
ФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России; ФГБУН «Центр теоретических проблем физико-химической фармакологии» РАН
Россия
Москва


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Для цитирования:


Бовт Е.А., Колева Л.Д., Черняк Е.А., Прудинник Д.С., Атауллаханов Ф.И., Сметанина Н.С., Синауридзе Е.И. Дефицит пируваткиназы и несфероцитарная гемолитическая анемия. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2020;19(3):121-130. https://doi.org/10.24287/1726-1708-2020-19-3-121-130

For citation:


Bovt E.A., Koleva L.D., Chernyak E.A., Prudinnik D.S., Ataullakhanov F.I., Smetanina N.S., Sinauridze E.I. Pyruvat kinase deficiency and nonspherocytic hemolytic anemia. Pediatric Hematology/Oncology and Immunopathology. 2020;19(3):121-130. (In Russ.) https://doi.org/10.24287/1726-1708-2020-19-3-121-130

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ISSN 1726-1708 (Print)
ISSN 2414-9314 (Online)