nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2020-7-2-86-93nodgo-607Research ArticleОБЗОРЫ ЛИТЕРАТУРЫLITERATURE REVIEWSДефицит пируваткиназы: эпидемиология, молекулярно-генетическая характеристика и современные подходы к диагностике (обзор литературы)Pyruvate kinase deficiency: epidemiology, molecular analyses and modern diagnostic approaches (literature review)https://orcid.org/0000-0001-9533-6583БанколеА. В.BankoleA. V.

студентка

Россия, 117997, Москва, ул. Островитянова, 1

Student

1 Ostrovityanova St., Moscow, 117997, Russia

vanmiradoctor@yandex.ruhttps://orcid.org/0000-0002-3852-9634ЧернякЕ. А.ChernyakE. A.

Екатерина Александровна Черняк, врач-гематолог консультативного отделения, научный сотрудник отдела оптимизации лечения гематологических заболеваний Института гематологии, иммунологии и клеточных технологий

Россия, 117997, Москва, ул. Саморы Машела, 1

E. A. Chernyak, Hematologist Advisory Department, Researcher Department for Optimizing the Treatment of Hematological Diseases of the Institute of Hematology, Immunology and Cell’s Technology

Samory Mashela St., Moscow, 117997, Russia

ekcherniak@yandex.ruФГАОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава РоссииРоссияN.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaRussian FederationФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава РоссииРоссияDmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of RussiaRussian Federation202004072020728693Copyright © Банколе А.В., Черняк Е.А., 20202020Банколе А.В., Черняк Е.А.Bankole A.V., Chernyak E.A.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/607

Наследственная несфероцитарная гемолитическая анемия вследствие дефицита пируваткиназы – наиболее распространенная среди всех ферментопатий эритроцитов. Фермент пируваткиназа необходим для последней ключевой стадии гликолиза – образования енольной формы пирувата и аденозинтрифосфата (АТФ) (50 % всей энергии АТФ эритроцитов). Недостаточное количество АТФ напрямую влияет на продолжительность жизни эритроцитов – сокращая ее. Поврежденные эритроциты раз- рушаются в капиллярах селезенки, приводя к развитию хронической гемолитической анемии. Дефицит пируваткиназы является аутосомно-рецессивным заболеванием в результате гомозиготных и компаунд-гетерозиготных мутаций в гене PKLR. Точные дан- ные о частоте встречаемости дефицита пируваткиназы отсутствуют, однако оцениваемая частота варьирует от 3:1 000 000 до 1:20 000. Клинические проявления заболевания варьируют по степени тяжести, которая может меняться с возрастом. Диагностика дефицита пируваткиназы основана на определении активности пируваткиназы и молекулярно-генетическом исследовании гена PKLR. Многообразие клинических проявлений, возможных осложнений, а также малодоступность диагностических методов затрудняют постановку диагноза.

Red cell pyruvate kinase deficiency is the most common glycolytic defect causing congenital nonspherocytic hemolytic anemia. Pyruvate kinase is the enzyme involved in the last step of glycolysis – the transfer of a phosphate group from phosphoenolpyruvate producing the enolate of pyruvate and ATP (50 % of total energy ATP of erythrocytes). ATP deficiency directly shortened red cell lifespan. Affected red blood cells are destroyed in the splenic capillaries, leading to the development of chronic hemolytic anemia. It is an autosomal recessive disease, caused by homozygous and compound heterozygous mutations in the PKLR gene. There are no exact data on the incidence of pyruvate kinase deficiency, but the estimated frequency varies from 3: 1,000,000 to 1:20,000. The clinical features of the disease and the severity are highly variable. Diagnosis of pyruvate kinase deficiency is based on the determination of pyruvate kinase activity and molecular genetic study of the PKLR gene. The variety of clinical manifestations, possible complications, as well as the inaccessibility of diagnostic methods complicate the diagnosis.

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