Pediatric Hematology/Oncology and Immunopathology

Вопросы гематологии/онкологии и иммунопатологии в педиатрии

1726-17082414-9314

Fund Doctors, Innovations, Science for Children

596

10.24287/1726-1708-2022-21-1-104-109

CLINICAL OBSERVATIONS

КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯ

Congenital combined vitamin K-dependent clotting factors deficiency: case reports

Комбинированный дефицит витамин К-зависимых факторов: клинические наблюдения

https://orcid.org/0000-0003-4555-9337

Florinskiy

D. B.

Флоринский

Д. Б.

Russian Federation

Dmitry B. Florinskiy, PhD student

117997, Moscow, Samory Mashela st., 1

Флоринский Дмитрий Борисович, аспирант

117997, Москва, ул. Саморы Машела, 1

dmitriy.florinskiy@fccho-moscow.ru

https://orcid.org/0000-0003-4384-6754

Zharkov

P. А.

Жарков

П. А.

Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-2057-2036

Pshonkin

A. V.

Пшонкин

А. В.

Russian Federation

Moscow

Москва

https://orcid.org/0000-0001-5209-2099

Poletaev

A. V.

Полетаев

А. В.

Russian Federation

Moscow

Москва

https://orcid.org/0000-0003-4567-1871

Fedorova

D. V.

Федорова

Д. В.

Russian Federation

Moscow

Москва

https://orcid.org/0000-0002-7534-3863

Seregina

E. A.

Серегина

Е. А.

Russian Federation

Moscow

Москва

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева» Минздрава России

Center for Theoretical Problems of Physicochemical Pharmacology, Russian Academy of SciencesФГБУН Центр теоретических проблем физико-химической фармакологии РАН

30032022

211

1041092903202229032022

2022

«D. Rogachev NMRCPHOI»

ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России

https://creativecommons.org/licenses/by/4.0

https://hemoncim.com/jour/article/view/596

Congenital combined vitamin K-dependent clotting factors deficiency is an extremely rare bleeding disorder, a few cases have been described worldwide. This coagulopathy requires a differential diagnosis with vitamin K deficiency bleeding of the newborn and coagulopathy, associated with different liver disease. The world practice of treating this hemorrhagic condition is the use of vitamin K 1 (not registered in the Russian Federation), as well as a prothrombin complex concentrate. This article describes the clinical manifestations, diagnosis and specific treatment in 2 patients with this bleeding disorder. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.

Комбинированный дефицит витамин К-зависимых факторов является крайне редкой патологией системы свертывания, описаны единичные случаи в мире. Данная коагулопатия требует дифференциального диагноза с геморрагической болезнью новорожденных и вторичной коагулопатией на фоне патологии печени. Мировой практикой лечения данного геморрагического состояния является применение витамина К1 (не зарегистрирован на территории Российской Федерации), а также концентрата протромбинового комплекса. В настоящей работе описаны клинические проявления, диагностика и специфическая терапия у 2 пациентов с данным диагнозом. Родители пациентов дали согласие на использование информации, в том числе фотографий детей, в научных исследованиях и публикациях.

rare bleeding disorderscongenital combined vitamin K-dependent clotting factors deficiencyprothrombin complex concentratevitamin K1

редкие коагулопатиикомбинированный дефицит витамин К-зависимых факторовконцентрат протромбинового комплексавитамин К1

1. Napolitano M., Mariani G., Lapecorella M., Hereditary combined deficiency of the vitamin K-dependent clotting factors Orphanet J Rare Dis 2010; 5: 21. DOI: 10.1186/1750-1172-5-21

Napolitano M., Mariani G., Lapecorella M., Hereditary combined deficiency of the vitamin K-dependent clotting factors Orphanet J Rare Dis 2010; 5: 21. DOI: 10.1186/1750-1172-5-21

2. Soute B., Ulrich M., Watson A., Maddison J., Ebberink R., Vermeer C. Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats. Thromb Haemost 1992; 68 (5): 521–5.

Soute B., Ulrich M., Watson A., Maddison J., Ebberink R., Vermeer C. Congenital deficiency of all vitamin K-dependent blood coagulation factors due to a defective vitamin K-dependent carboxylase in Devon Rex cats. Thromb Haemost 1992; 68 (5): 521–5.

3. Brenner B., Kuperman A., Watzka M., Oldenburg J. Vitamin K-dependent coagulation factors deficiency. Semin Thromb Hemost 2009; 35 (4): 439–46.

Brenner B., Kuperman A., Watzka M., Oldenburg J. Vitamin K-dependent coagulation factors deficiency. Semin Thromb Hemost 2009; 35 (4): 439–46.

4. McMillan C., Roberts H. Congenital combined deficiency of coagulation factors II VII, IX, and X. Report of a case. N Engl J Med 1966; 274 (23): 1313–5. DOI: 10.1056/NEJM196606092742309

McMillan C., Roberts H. Congenital combined deficiency of coagulation factors II VII, IX, and X. Report of a case. N Engl J Med 1966; 274 (23): 1313–5. DOI: 10.1056/NEJM196606092742309

5. Oldenburg J., von Brederlow B., Fregin A., Rost S., Wolz W., Eberl W., et al. Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. Thromb Haemost 2000; 84 (6): 937–41

Oldenburg J., von Brederlow B., Fregin A., Rost S., Wolz W., Eberl W., et al. Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex. Thromb Haemost 2000; 84 (6): 937–41

6. Brenner B., Sa´nchez-Vega B., Wu S.M., Lanir N., Stafford D.W., Solera J. A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 1998; 92 (12): 4554–9.

Brenner B., Sa´nchez-Vega B., Wu S.M., Lanir N., Stafford D.W., Solera J. A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 1998; 92 (12): 4554–9.

7. Spronk H., Farah R., Buchanan G., Vermeer C., Soute B. Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 2000; 96 (10): 3650–2.

Spronk H., Farah R., Buchanan G., Vermeer C., Soute B. Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors. Blood 2000; 96 (10): 3650–2.

8. Brenner B., Tavori S., Zivelin A., Keller C., Suttie J., Tatarsky I., et al. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Haematol 1990; 75 (4): 537–42. DOI: 10.1111/j.1365-2141.1990.tb07795.x

Brenner B., Tavori S., Zivelin A., Keller C., Suttie J., Tatarsky I., et al. Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. Br J Haematol 1990; 75 (4): 537–42. DOI: 10.1111/j.1365-2141.1990.tb07795.x

9. Pauli R., Lian J., Mosher D., Suttie J. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives. Am J Hum Genet 1987; 41 (4): 566–83.

Pauli R., Lian J., Mosher D., Suttie J. Association of congenital deficiency of multiple vitamin K-dependent coagulation factors and the phenotype of the warfarin embryopathy: clues to the mechanism of teratogenicity of coumarin derivatives. Am J Hum Genet 1987; 41 (4): 566–83.

10.

10. Vanakker O., Martin L., Gheduzzi D., Leroy B., Loeys B., Guerci V., et al. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol 2007; 127 (3): 581–7. DOI: 10.1038/sj.jid.5700610

Vanakker O., Martin L., Gheduzzi D., Leroy B., Loeys B., Guerci V., et al. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol 2007; 127 (3): 581–7. DOI: 10.1038/sj.jid.5700610

11.

11. Гобадзе Д.А., Жарков П.А. Сложности диагностики вторичной витамин К-зависимой коагулопатии у детей на примере клинического случая. Российский журнал детской гематологии и онкологии 2018; 5 (1): 64–7.

Гобадзе Д.А., Жарков П.А. Сложности диагностики вторичной витамин К-зависимой коагулопатии у детей на примере клинического случая. Российский журнал детской гематологии и онкологии 2018; 5 (1): 64–7.

12.

12. Puckett R., Offringa M. Prophylactic vitamin K for vitamin K deficiency bleeding in neonates. Cochrane Database Syst Rev 2000;2000(4):CD002776.

Puckett R., Offringa M. Prophylactic vitamin K for vitamin K deficiency bleeding in neonates. Cochrane Database Syst Rev 2000;2000(4):CD002776.

13.

13. Wu S., Stafford D., Frazier L., Fu Y., High K., Chu K., et al. Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase. Blood 1997; 89 (11): 4058–62.

Wu S., Stafford D., Frazier L., Fu Y., High K., Chu K., et al. Genomic sequence and transcription start site for the human gamma-glutamyl carboxylase. Blood 1997; 89 (11): 4058–62.

14.

14. [Электронный ресурс] URL: https://grls.rosminzdrav.ru/Default.aspx. Дата обращения 15.07.2021.

[Электронный ресурс] URL: https://grls.rosminzdrav.ru/Default.aspx. Дата обращения 15.07.2021.

15.

15. Furie B., Furie B. Molecular basis of vitamin K-dependent gammacarboxylation. Blood 1990; 75 (9): 1753–62.

Furie B., Furie B. Molecular basis of vitamin K-dependent gammacarboxylation. Blood 1990; 75 (9): 1753–62.

16.

16. Mumford A., Ackroyd S., Alikhan R., Bowles L., Chowdary P., Grainger J., et al. BCSH Committee Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol 2014; 167 (3): 304–26. DOI: 10.1111/bjh.13058

Mumford A., Ackroyd S., Alikhan R., Bowles L., Chowdary P., Grainger J., et al. BCSH Committee Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol 2014; 167 (3): 304–26. DOI: 10.1111/bjh.13058