Çocukluk Çağında Atipik Hemolitik Üremik Sendrom

Yıl 2018, Cilt: 45 Sayı: 4, 491 - 501, 13.12.2018

Mehtap Akbalık Kara Beltinge Demircioğlu Kılıç

https://doi.org/10.5798/dicletip.497936

Öz

Atipik hemolitik üremik sendrom,
alternatif komplemanın yolunun kronik kontrolsüz aktivasyonundan ortaya çıkan
trombotik mikroanjiyopatinin nadir bir şeklidir. Atipik hemolitik üremik
sendrom, immün olmayan hemolitik anemi, trombositopeni ve böbrek tutulumu ile
ilişkilidir. Hastalık akut dönemde mortalite ve morbiditeye ve uzun dönemde son
dönem böbrek yetmezliğine neden olabilir. Hastalıkta her ne kadar böbrek
tutulumu görülse de, vakaların % 20'sinde ekstra-renal tutulum görülebilir.
Tanı konan hastalarda genetik çalışma yapılmalı böbrek fonksiyonlarının
korunması ve hematolojik remisyon sağlanması için hızla tedavi başlanmalıdır.
Tanıdan sonraki ilk 24 saatte birinci basamak tedavi olarak taze donmuş plazma
ile plazmaferez tedavisi başlanmalıdır, gereklilik durumunda ekuluzimab
tedavisine geçilmelidir. Son dönem böbrek yetmezliği gelişmiş olgularda
karaciğer veya karaciğer- böbrek nakli ekuluzimab tedavisi ile birlikte
planlanabilir. 

Anahtar Kelimeler

Çocukluk çağı, atipik hemolitik üremik sendrom

Kaynakça

• 1. Kaplan BS, Ruebner RL, Spinale JM, et al. Current treatment of atypical hemolytic uremic syndrome . Intractable & Rare Dis Res. 2014; 3: 34-45.
• 2. Gasser C, Gautier E, Steck A, et al. Hemolytic-uremic syndrome: Bilateral necrosis of the renal cortex in acute acquired hemolytic anemia. Schweiz Med Wochenschr. 1955; 85: 905-909.
• 3. Rosove M. Thrombotic microangiopathies. Semin Arth. and Rheum. 2014; 43: 797-805.
• 4. Mannucci PM, Cugno M. The complex differential diagnosis between thrombotic thrombocytopenic purpura and the atypical hemolytic uremic syndrome: Laboratory weapons and their impact on treatment choice and monitoring Thromb Res. 2015; 136: 851-4.
• 5. Canpolat N. Hemolytic uremic syndrome. Turk Pediatri Ars. 2015; 50: 73-82.
• 6. Cataland SR, Wu HM. Atypical hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: clinically differentiating the thrombotic microangiopathies. Eur J Intern Med. 2013 Sep;24: 486-91.
• 7. Mannucci PM, Cugno M. The complex differential diagnosis between thrombotic thrombocytopenic purpura and the atypical hemolytic uremic syndrome: Laboratory weapons and their impact on treatment choice and monitoring. Thromb Res. 2015; 136: 851-4.
• 8. Fremeaux-Bacchi V, Fakhouri F, Garnier A, et al. Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin J Am Soc Nephrol. 2013; 8: 554-62.
• 9. Loirat C, Fakhouri F, Ariceta G, et al. An international consensus approach to the management of atypical hemolytic uremic syndrome in children. Pediatr Nephrol. 2016; 31: 15-39.
• 10. Fakhouri F, Zuber J, Frémeaux-Bacchi V, et al. Haemolytic uraemic syndrome. Lancet. 2017; 390: 681-696.
• 11. Picard C, Burtey S, Bornet C, et al. . Pathophysiology and treatment of typical and atypical hemolytic uremic syndrome. Pathol Biol. 2015; 63: 136-43.
• 12. Nester CM, Thomas CP. Atypical hemolytic uremic syndrome: what is it, how is it diagnosed, and how is it treated? Hematology Am Soc Hematol Educ Program. 2012; 2012: 617-25.
• 13. Kavanagh D, Goodship TH, Richards A. Atypical hemolytic uremic syndrome. Semin Nephrol. 2013; 33: 508-30.
• 14. Le Quintrec M, Roumenina L, Noris M, et al. Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes. Semin Thromb Hemost. 2010; 36: 641-52.
• 15. Caprioli J, Noris M, Brioschi S, et al. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006; 108: 1267-79.
• 16. Durey MA, Blanc C, Garnier A, et al. Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS. Semin Thromb Hemost. 2010; 36: 633-40.
• 17. Nester CM, Barbour T, de Cordoba SR, et al. Atypical aHUS: State of the art. Mol Immunol. 2015; 67: 31-42.
• 18. Loirat C, Frémeaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011; 8: 6:60.
• 19. Noris M, Caprioli J, Bresin E, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.Clin J Am Soc Nephrol. 2010; 5: 1844-59.
• 20. Dixon BP, Gruppo RA. Atypical Hemolytic Uremic Syndrome. Pediatr Clin North Am. 2018; 65: 509-525.
• 21. Sallée M, Ismail K, Fakhouri F, Vacher-Coponat H, et al. Thrombocytopenia is not mandatory to diagnose haemolytic and uremic syndrome. 2013; 8; 14:3.
• 22. Çakar N, Ozcakar ZB, Ozaltin F , et al. Atypical Hemolytic Uremic Syndrome in Children Aged <2 Years. Nephron. 2018; 139: 211-218.
• 23. Noris M, Galbusera M, Gastoldi S, et al .Dynamics of complement activation in aHUS and how to monitor eculizumab therapy.Blood. 2014; 124: 1715-26.
• 24. Gruppo RA, Rother RP. Eculizumab for congenital atypical hemolytic-uremic syndrome. N Engl J Med. 2009; 360: 544-6.
• 25. Licht C, Greenbaum LA, Muus P, et al. Efficacy and safety of eculizumab in atypical hemolytic uremic syndrome from 2-year extensions of phase 2 studies. Kidney Int. 2015; 87: 1061-73.
• 26. Nishimura J, Yamamoto M, Hayashi S, et al. Genetic variants in C5 and poor response to eculizumab. N Engl J Med. 2014; 370: 632-9.
• 27. Fidan K, Göknar N, Gülhan B et al, Extra-Renal manifestations of atypical hemolytic uremic syndrome in children. Pediatr Nephrol. 2018; 33: 1395-403.
• 28. Cugno M, Gualtierotti R, Possenti I, et al. Complement functional tests for monitoring eculizumab treatment in patients with atypical hemolytic uremic syndrome. J Thromb Haemost. 2014; 12: 1440-8.
• 29. Saland J. Liver-kidney transplantation to cure atypical HUS: still an option post-eculizumab? Pediatr Nephrol. 2014; 29: 329-32.