Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children38810.24287/1726-1708-2020-19-3-90-94CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯDiagnostic challenges in pyruvate kinase deficiencyСложности диагностики дефицита пируваткиназыhttps://orcid.org/0000-0001-9081-5120KhadzhievaF. R.ХаджиеваФ. Р.
Russian Federation

Hematologist of the Outpatient Department №3 of the Consultative and Diagnostic Center,

119049, Moscow, 4th Dobryninskiy Per., 1/9

рач-гематолог амбулаторного отделения №3 консультативнодиагностического центра,

119049, Москва, 4-й Добрынинский пер., 1/9 

fatima09876@bk.ruhttps://orcid.org/0000-0002-4070-3064MushanovaS. N.МушановаС. Н.
Russian Federation

119049, Moscow, 4th Dobryninskiy Per., 1/9

119049, Москва, 4-й Добрынинский пер., 1/9

https://orcid.org/0000-0002-4986-5748KekeevaT. N.КекееваТ. Н.
Russian Federation

119049, Moscow, 4th Dobryninskiy Per., 1/9

119049, Москва, 4-й Добрынинский пер., 1/9

https://orcid.org/0000-0003-2747-695XLavrentyevaI. N.ЛаврентьеваИ. Н.
Russian Federation

119049, Moscow, 4th Dobryninskiy Per., 1/9

119049, Москва, 4-й Добрынинский пер., 1/9

https://orcid.org/0000-0002-7634-2053RaykinaE. V.РайкинаЕ. В.
Russian Federation

Moscow

Москва

Morozov Children’s City Clinical Hospital, Department of Health in MoscowГБУЗ «Морозовская детская городская клиническая больница Департамента здравоохранения г. Москвы»Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России0809202019390940510202005102020Copyright ©; 2025, «D. Rogachev NMRCPHOI»Copyright ©; 2025, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2025«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/388

Red cell pyruvate kinase deficiency is a rare congenital, nonspherocytic hemolytic anemia caused by a glycolytic defect that is due to compound heterozygous or homozygous mutations in the PKLR gene on chromosome 1q21. The article presents analytical review of literature and the clinical case of pyruvate kinase deficiency. Patient's parents agreed to use personal dats and photos in research and publications.

Дефицит пируваткиназы является редкой врожденной несфероцитарной гемолитической анемией, вызванной дефектом гликолитического пути, вследствие компаунд-гетерозиготных или гомозиготных мутаций в гене PKLR, расположенном на хромосоме 1q21. В статье представлен анализ литературных данных и разбор клинического случая дефицита пируваткиназы. Родители пациента дали согласие на использование информации, в том числе фотографии ребенка, в научных исследованиях и публикациях.

pyruvate kinase deficiencyhemolytic anemiaPKLRдефицит пируваткиназыгемолитическая анемияPKLR1. Zanella A., Fermo E., Bianchi P., Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Brit J Haemat 2005; 130 (1): 11–25. DOI: 10.1111/j.1365-2141.2005.05527.xZanella A., Fermo E., Bianchi P., Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Brit J Haemat 2005; 130 (1): 11–25. DOI: 10.1111/j.1365-2141.2005.05527.x2. Grace R.F., Bianchi P., van Beers E.J., Eber S.W., Glader B., Yaish H.M. et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 2018; 131 (20): 2183–92. DOI: 10.1182/blood-2017-10-810796Grace R.F., Bianchi P., van Beers E.J., Eber S.W., Glader B., Yaish H.M. et al. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 2018; 131 (20): 2183–92. DOI: 10.1182/blood-2017-10-8107963. Valentine W.N., Tanaka K.R., Miwa S. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Trans Assoc Am Physicians 1961; 74: 100–10.Valentine W.N., Tanaka K.R., Miwa S. A specific erythrocyte glycolytic enzyme defect (pyruvate kinase) in three subjects with congenital non-spherocytic hemolytic anemia. Trans Assoc Am Physicians 1961; 74: 100–10.4. Tanaka K.R., Valentine W.N., Miwa S. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. Blood 1962; 19: 267–95.Tanaka K.R., Valentine W.N., Miwa S. Pyruvate kinase (PK) deficiency hereditary nonspherocytic hemolytic anemia. Blood 1962; 19: 267–95.5. Tani K., Fujii H., Tsutsumi H., Sukegawa J., Toyoshima K., Yoshida M.C., et al. Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment. Biochem Biophys Res Commun 1987; 143 (2): 431–8. DOI: 10.1016/0006-291x(87)91372-6Tani K., Fujii H., Tsutsumi H., Sukegawa J., Toyoshima K., Yoshida M.C., et al. Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment. Biochem Biophys Res Commun 1987; 143 (2): 431–8. DOI: 10.1016/0006-291x(87)91372-66. Satoh H., Tani K., Yoshida M.C., Sasaki M., Miwa S., Fujii H. The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21. Cytogenet Cell Genet 1988; 47: 132–3. DOI: 10.1159/000132530Satoh H., Tani K., Yoshida M.C., Sasaki M., Miwa S., Fujii H. The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21. Cytogenet Cell Genet 1988; 47: 132–3. DOI: 10.1159/0001325307. Румянцев А.Г., Токарев Ю.Н., Сметанина Н.С. Гемоглобинопатия и талассемические синдромы. М.: Практическая медицина; 2015. С. 94–104.Румянцев А.Г., Токарев Ю.Н., Сметанина Н.С. Гемоглобинопатия и талассемические синдромы. М.: Практическая медицина; 2015. С. 94–104.8. Grace R.F., Zanella A., Neufeld E.J., Holmes Morton D., Eber S., Yaish H., et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol 2015; 90 (9): 825–30. DOI: 10.1002/ajh.24088Grace R.F., Zanella A., Neufeld E.J., Holmes Morton D., Eber S., Yaish H., et al. Erythrocyte pyruvate kinase deficiency: 2015 status report. Am J Hematol 2015; 90 (9): 825–30. DOI: 10.1002/ajh.240889. Grace R.F., Mark Layton D., Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol 2019; 184 (5): 721–34. DOI: 10.1111/bjh.15758Grace R.F., Mark Layton D., Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol 2019; 184 (5): 721–34. DOI: 10.1111/bjh.1575810. Bianchi P., Fermo E., Glader B., Kanno H., Agarwal A., Barcellini W., et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol 2019; 94 (1): 149–61. DOI: 10.1002/ajh.25325Bianchi P., Fermo E., Glader B., Kanno H., Agarwal A., Barcellini W., et al. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. Am J Hematol 2019; 94 (1): 149–61. DOI: 10.1002/ajh.2532511. Viprakasit V., Ekwattanakit S., Riolueang S., Chalaow N., Fisher C., Lower K., et al. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood 2014; 123 (10): 1586–95. DOI: 10.1182/blood-2013-09-526087Viprakasit V., Ekwattanakit S., Riolueang S., Chalaow N., Fisher C., Lower K., et al. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood 2014; 123 (10): 1586–95. DOI: 10.1182/blood-2013-09-52608712. Tanphaichitr V.S., Suvatte V., Issaragrisil S., Mahasandana C., Veerakul G., Chongkolwatana V., et al. Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplant 2000; 26 (6): 689–90. DOI: 10.1038/sj.bmt.1702576Tanphaichitr V.S., Suvatte V., Issaragrisil S., Mahasandana C., Veerakul G., Chongkolwatana V., et al. Successful bone marrow transplantation in a child with red blood cell pyruvate kinase deficiency. Bone Marrow Transplant 2000; 26 (6): 689–90. DOI: 10.1038/sj.bmt.170257613. van Straaten S., Bierings M., Bianchi P., Akiyoshi K., Каnno H., Badell Serra I., et al. Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency. Haematologica 2018; 103 (2): e82–6. DOI: 10.3324/haematol.2017.177857van Straaten S., Bierings M., Bianchi P., Akiyoshi K., Каnno H., Badell Serra I., et al. Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency. Haematologica 2018; 103 (2): e82–6. DOI: 10.3324/haematol.2017.17785714. Rab M.A.E., van Oirschot B.A., Kosinski P.A., Нixon J., Johnson K., Chubukov V., et al. AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes. Haematologica 2020; haematol.2019.238865. DOI: 10.3324/haematol.2019.238865Rab M.A.E., van Oirschot B.A., Kosinski P.A., Нixon J., Johnson K., Chubukov V., et al. AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes. Haematologica 2020; haematol.2019.238865. DOI: 10.3324/haematol.2019.23886515. Grace R.F., Rose C., Layton D.M., Galacteros F., Barcellini W., Morton H.D., et al. Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency. N Engl J Med 2019; 381 (10): 933–44. DOI: 10.1056/NEJMoa1902678Grace R.F., Rose C., Layton D.M., Galacteros F., Barcellini W., Morton H.D., et al. Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency. N Engl J Med 2019; 381 (10): 933–44. DOI: 10.1056/NEJMoa1902678