"Autoimmune" atypical hemolytic-uremic syndrome in a child - genetic carrier of multiple polymorphisms of hemostasis genes (clinical observation)

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详细

The article presents the clinical observation of a patient with «autoimmune» atypical hemolytic-uremic syndrome (HUS), which was difficult to diagnose and treat due to the fact that the HUS developed in a child - genetic carrier of multiple polymorphisms of hemostasis genes.

参考

  1. Зверев Д.В., Эмирова Х.М., Абасеева Т.Ю. Гемолитико-уремический синдром. М., 2011. С. 557-567.
  2. Макарова Т.П., Эмирова Х.М., Зверев Д.В., Осипова Н.В. Атипичный гемолитико-уремический синдром. Практическая медицина. 2012; 7: 57-61.
  3. Loirat C., Frémeaux-Bacchi V. Атипичный гемолитико-уремический синдром. Нефрология. 2012; 16(2): 16-48.
  4. Ruggenenti P., Noris M., Remuzzi G. Thrombotic microangiopathy, hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura. Kidney Int. 2001; 60: 831-846.
  5. Huber-Lang M., Sarma J.V., Zetoune F. Setal. Generation of C5a in the absence of C3: a new complement activation pathway. Nature Med. 2006; 12: 682-687.
  6. Козловская Н.Л., Хафизова Е.Ю., Боброва Л.А., Бобкова И.Н., Кучиева А.М., Варшавский В.А., Столяревич Е.С., Авдонин П.В., Захарова Е.В. Роль дефицита ADAMTS13 в развитии тромбозов микроциркуляторного русла почек, не ассоциированных с тромботической тромбоцитопенической пурпурой. Клиническая нефрология. 2011; 6: 25-31.
  7. Kavanagh D., Goodship T. Genetics and complement inatypical HUS. Pediatr. Nephrol. 2010; 25: 2431-2442.
  8. Roumenina L.T., Loirat C., Dragon-Durey M.A., Halbwachs-Mecarelli L., Sautes-Fridman C., Fremeaux-Bacchi V. Alternative complement pathway assessment in patients with atypical HUS. J. Immunol. Methods. 2011; 365: 8-26.
  9. Noone D., Waters A., Plutherto F.G., Geary D.F., Kirschfink M., Zipfel P.F., Licht C. Successful treatment of DEAP-HUS with eculizumab. Pediatr. Nephrol. 2013- doi: 10.1007/s00467-013-2654-x.
  10. Amara U., Flierl M. A, Rittirsch D., Klos A., Chen H., Acker B., Brückner U.B., Nilsson B., Gebhard F., Lambris J.D., Huber-Lang M. Molecular intercommunication between the complement and coagulation systems. Journ. Immunol. 2010; 185: 5628-5636.
  11. Markiewski M.M., Nilsson B., Ekdahl K.N., Mollnes T.E., Lambris J.D. Complement and coagulation: strangers or partners in crime? Trends in Immunology. 2007; 28(4): 184-192.
  12. Oikonomopoulou K., Ricklin D., Ward P.A., Lambris J.D. Interactions between coagulation and complement - their role in inflammation. SeminImmunopathol. 2012; 34(1): 151-165.
  13. Dragon-Durey M.A., Loirat C., Cloarec S., Macher M.A., Blouin J., Nivet H., Weiss L., Fridman W.H., Frémeaux-Bacchi V. Anti factot H autoantibodies associated with atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 2005; 16: 555-563.
  14. Jozsi M., Licht C., Strobel S., Zipfel S.L., Richter H., Heinen S., Zipfel P.F., Skerka C. Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency. Blood. 2008; 111: 1512-1514.
  15. Dragon-Durey M.A., Sethi S.K., Bagga A., Blanc C., Blouin J., Ranchin B., André J.L., Takagi N., Cheong H.I., Hari P., Le Quintrec M., Niaudet P., Loirat C., Fridman W.H., Frémeaux-Bacchi V. Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. J. Am. Soc. Nephrol. 2010; 21: 2180-2817. 16.
  16. Le Quintrec M., Zuber J., Noel L.H., Thervet E., Frémeaux-Bacchi V., Niaudet P., Fridman W.H., Legendre C., Dragon-Durey M.A. Factor H autoantibodies in a fifth renal transplant recipient with atypical hemolytic and uremic syndrome. Am. J. Transplant. 2009; 9: 1223-1229.
  17. Boyer O., Balzamo E., Charbit M., Biebuyck-Gougé N., Salomon R., Dragon-Durey M.A., Frémeaux-Bacchi V., Niaudet P. Pulse cyclophosphamide therapy and clinical remission in atypical hemolytic uremic syndrome with anticomplement factor H autoantibodies. Am. J. Kidney Dis. 2010; 55(5): 23-927.
  18. Loirat C., Fakhouri F., Ariceta G., Besbas N., Bitzan M., Bjerre A., Coppo R., Emma F., Johnson S., Karpman D., Landau D., Langman C.B., Lapeyraque A.L., Licht C., Nester C., Pecoraro C., Riedl M., van de Kar N.C., Van de Walle J., Vivarelli M., Frémeaux-Bacchi V. An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr. Nephrol. 2015 - doi: 10.1007/s00467-015-3076-8.
  19. Green H., Harari E., Davidovits M., Blickstein D., Grossman A., Gafter U., Gafter-Gvili A. Atypical HUS due to factor H antibodies in an adult patientssuccessfully treated with eculizumab. Ren. Fail. 2014; 36: 1119-1121.
  20. Diamante C.B., Davin J.C., Corazza F., Khaldi K., Dahan K., Ismaili K., Adams B. Eculizumab in anti-factor H antibodies associated with atypical hemolytic uremic syndrome. Pediatrics. 2014; 133: e1764-1768.
  21. Эмирова Х.М., Попа А.В., Козловская Н.Л., Толстова Е.М., Макулова А.И., Панкратенко Т.Е., Абасеева Т.Ю., Зайцева О.В. Наследственная тромбофилия как фактор риска тяжелого течения гемолитико-уремического синдрома у детей. Педиатрия. 2014; 14(2): 11-19.
  22. Козловская Н.Л., Боброва Л.А., Шкарупо В.В., Варшавский В.А., Мирошничеко Н.Г. Клинико-морфологические особенности поражения почек у больных с генетической формой тромбофилии. Терапевтический архив. 2009; 8: 30-36.
  23. Bu F., Maga T., Meyer N.C., Wang K., Thomas C.P., Nester C.M., Smith R.J. Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome. J. Am. Soc. Nephrol. 2014; 25: 55-64.

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