FAMILIAL ATYPICAL HEMOLYTIC UREMIC SYNDROME WITH POSITIVE p.S1191L (c.3572C>T) MUTATION ON THE CFH GENE: A SINGLE-CENTER EXPERIENCE
Ersoy Dursun F1,*, Yesil G2, Sasak G3, Dursin H4
*Corresponding Author: Dr. Fadime Ersoy Dursun, Hematoloji Bilim Dalı, Istanbul Medeniyet Universitesi Tıp Fakultesi, Dr. Erkin Cad. No. 6, 34722 Kadıköy, Istanbul, Turkiye. Tel.: +90-536-838-5101. Fax: +90-216-606-5210. E-mail: drfadimeersoy@yahoo.com.tr
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REFERENCES

1. Fakhouri F, Zuber J, Frémeaux-Bacchi V, Loirat C. Haemolytic uraemic syndrome. Lancet. 2017; 390(10095): 681-696. 2. Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, et al. Atypical hemolytic-uremic syndrome: An update on pathophysiology, diagnosis, and treatment. Ther Apher Dial. 2019; 23(1): 4-21. 3. Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009; 361(17): 1676-1687. 4. Moake JL. Thrombotic microangiopathies. N Engl J Med. 2002; 347(8): 589-600. 5. Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, 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(19): 1844-1859. 6. Dragon-Durey MA, Sethi SK, Bagga A, Blanc C, Blouin J, Ranchin B, et al. Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome. J Am Soc Nephrol. 2010; 21(12): 2180-2187. 7. Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, et al. Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006; 108(4): 1267-1279. 8. Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, Gamba S, et al. The molecular basis of familial hemolytic uremic syndrome: Mutation analysis of factor H gene reveals a hot spot in short consensus repeat. J Am Soc Nephrol. 2001; 12(2): 297-307. 9. Herbert AP, Kavanagh D, Johansson C, Morgan HP, Blaum BS, Hannan JP, et al. Structural and functional characterization of the product of disease-related factor H gene conversion. Biochemistry. 2012; 51(9): 1874-1884. 10. Perez-Caballero D, Gonzalez-Rubio C, Gallardo ME, Vera M, López-Trascasa M, Rodríguez de Córdoba S, et al. Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am J Hum Genet. 2001; 68(2): 478-484. 11. Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaimé F, Dragon-Durey MA, Ngo S, 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(4): 554-562. 12. Schönauer R, Seidel A, Grohmann M, Lindner TH, Bergmann C, Halbritter J. Deleterious impact of a novel CFH splice site variant in atypical hemolytic uremic syndrome. Front Genet. 2019; 10: 465-471. 13. Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, et al. Atypical haemolytic uraemic syndrome associated with a hybrid complement gene. PLoS Med. 2006; 3(10): e431-e442. 14. Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, Kemp EJ, et al. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mutat. 2006; 27(3): 292-293. 15. Vaziri-Sani F, Holmberg L, Sjöholm AG, Kristoffersson AC, Manea M, Frémeaux-Bacchi V. Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. Kidney Int. 2006; 69(6): 981-988. 16. Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, Venning MC, et al. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet. 2001; 68(2): 485-490. 17. Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, et al. Complement factor I: A susceptibility gene for atyp ical haemolytic uraemic syndrome. J Med Genet. 2004;41(6): e84-e90. 18. Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, Caudy A, et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2006; 17(7): 2017-2025. 19. Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, et al. Gainof- function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci USA. 2007; 104(1): 240-245. 20. Hu H, Nagra A, Haq MR, Gilbert RD. Eculizumab in atypical haemolytic uraemic syndrome with severe cardiac and neurological involvement. Pediatr Nephrol. 2014; 29(6): 1103-1106. 21. Olie KH, Florquin S, Groothoff JW, Verlaak R, Strain L, Goodship TH, et al. Atypical relapse of hemolytic uremic syndrome after transplantation. Pediatr Nephrol. 2004; 19(10): 1173-1176. 22. Olie KH, Goodship TH, Verlaak R, Florquin S, Groothoff JW, Strain L, et al. Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: Successful treatment with intensive plasma exchanges and ganciclovir. Am J Kidney Dis. 2005; 45(1): e12-e15. 23. Davin JC, Strain L, Goodship TH. Plasma therapy in atypical haemolytic uremic syndrome: Lessons from a family with a factor H mutation. Pediatr Nephrol. 2008; 23(9): 1517-1521. 24. Lapeyraque AL, Wagner E, Phan V, Clermont MJ, Merouani A, Fremeaux-Bacchi V, et al. Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations. Pediatr Nephrol. 2008; 23(8): 1363-1366. 25. Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, et al. Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol. 2009; 24(4): 687-696. 26. Hidalgo M, Pinto S, Tortajada A, Rodríguez de Córdoba S. Genetics of atypical hemolytic uremic syndrome (aHUS). Semin Thromb Hemost. 2014; 40(04): 422-430. 27. Afshar-Kharghan V. Atypical hemolytic uremic syndrome. Hematology Am Soc Hematol Educ Program. 2016; 2016(1): 217-225. 28. Feitz WJC, van de Kar NCAJ, Orth-Höller D, van den Heuvel LPJW, Licht C. The genetics of atypical hemolytic uremic syndrome. Med Genet. 2018; 30 (4): 400-409. 29. Boon CJF, van de Kar NC, Klevering BJ, Keunen JEE, Cremers FPM, Klaver CCW, et al. The spectrum of phenotypes caused by variants in the CFH gene. Mol Immunol. 2009; 46(8-9): 1573-1594. 30. Józsi M, Strobel S, Dahse HM, Liu WS, Hoyer PF, Oppermann M, et al. Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome. Blood. 2007; 110(5): 1516-1518. 31. Cody EM, Dixon BP. Hemolytic uremic syndrome. Pediatr Clin North Am. 2019; 66 (1): 235-246. 32. Loirat C, Frémeaux-Bacchi V. Atypical hemolytic uremic syndrome. Orphanet J Rare Dis. 2011; 8: 60-90. 33. Arjona E, Huerta A, Goicoechea de Jorge E, Rodríguez de Córdoba S. Familial risk of developing atypical hemolytic-uremic syndrome. Blood. 2020; 136(13): 1558-1561. 34. Sartz L, Olin AI, Kristoffersson AC, Ståhl AL, Johansson ME, Westman K, et al. A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome. J Immunol. 2012; 188(4): 2030-2037. 35. Bhatia D, Khandelwal P, Sinha A, Hari P, Cheong HI, Bagga A. Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome. Pediatr Nephrol. 2015; 30(12): 2215-2220. 36. Cao M, Leite BN, Ferreiro T, Calvo M, Fernández C, Alonso Á, et al. Eculizumab modifies outcomes in adults with atypical hemolytic uremic syndrome with acute kidney injury. Am J Nephrol. 2018;48(3): 225-233. 37. Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, et al. An international consensus approach to the management of atypical hemolytic uremic syndromein children. Pediatr Nephrol. 2016; 31(1):15-39. 38. Merrill SA, Brittingham ZD, Yuan X, Moliterno AR, Sperati CJ, Brodsky RA, et al. Eculizumab cessation in atypical hemolytic uremic syndrome. Blood. 2017; 130(3): 368-372. 39. Ruszkowski J, Heleniak Z, Dębska-Ślizień A. Atypical hemolytic uremic syndrome: A new drug program and first Polish adult patient treated with eculizumab. Pol Merkur Lekarski. 2018; 45 (267): 119-121. 40. Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, et al. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013; 368(23): 2169-2181.



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