Analysis of patients with atypical hemolytic uremic syndrome treated at the Mie University Hospital: Concentration of C3 p.I1157T mutation

International Journal of Hematology

Volumn 100, Issue 5, 2014, Pages 437-442

  Matsumoto, Takeshi ^a   Fan, Xinping ^b   Ishikawa, Eiji ^c   Ito, Masaaki ^c   Amano, Keishirou ^c   Toyoda, Hidemi ^c   Komada, Yoshihiro ^c   Ohishi, Kohshi ^a   Katayama, Naoyuki ^c   Yoshida, Yoko ^d   Matsumoto, Masanori ^d   Fujimura, Yoshihiro ^d   Ikejiri, Makoto ^c   Wada, Hideo ^c   Miyata, Toshiyuki ^b  

^a MIE UNIVERSITY HOSPITAL   (Japan)

^b NATIONAL CEREBRAL AND CARDIOVASCULAR CENTER   (Japan)

^c MIE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

aHUS; C3 mutation; Renal failure; Thrombotic microangiopathy; Trigger factor

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; THBD PROTEIN, HUMAN; THROMBOMODULIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; FEMALE; GENETICS; HUMAN; KIDNEY FUNCTION TEST; MALE; METABOLISM; MIDDLE AGED; MUTATION; PEDIGREE; PRESCHOOL CHILD; RENAL REPLACEMENT THERAPY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHILD; CHILD, PRESCHOOL; COMPLEMENT C3; COMPLEMENT FACTOR H; FEMALE; HUMANS; KIDNEY FUNCTION TESTS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RENAL DIALYSIS; THROMBOMODULIN; YOUNG ADULT;

EID: 84936775679     PISSN: 09255710     EISSN: 18653774     Source Type: Journal    
DOI: 10.1007/s12185-014-1655-2     Document Type: Article

References (27)

1. Boyce TG, Swerdlow DL, Griffin PM. Escherichia coli O157:7 and the hemolytic-uremic syndrome. N Engl J Med. 1995;333:364–8.
2. Moake JL. Thrombotic microangiopathies. N Engl J Med. 2002;347:589–600.
3. Tanabe S, Yagi H, Kimura T, Isonishi A, Kato S, Yoshida Y, Hayakawa M, Matsumoto M, Ohtaki S, Takahashi Y, Fujimura Y. Two newborn-onset patients of Upshaw-Schulman syndrome with distinct subsequent clinical courses. Int J Hematol. 2012;96:789–97.
4. Iioka F, Shimomura D, Ishii T, Maesako Y, Ohgoe K, Nakamura F, Matsuo S, Ohno H. Short- and long-term effects of rituximab for the treatment of thrombotic thrombocytopenic purpura: four case reports. Int J Hematol. 2012;96:506–12.
5. Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361:1676–87.
6. Tarr PI, Gordon CA, Chandler WL. Shiga-toxin-producing Escherichia coli and haemolytic uraemic syndrome. Lancet. 2005;365:1073–86.
7. Roumenina LT, Loirat C, Dragon-Durey MA, 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.
8. Sethi S, Fervenza FC. Membranoproliferative glomerulonephritis–a new look at an old entity. N Engl J Med. 2012;366:1119–31.
9. Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med. 2009;361:345–57.
10. Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G. 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.
11. Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, Decorte R, Muslumanoglu MH, Kavukcu S, Filler G, Pirson Y, Wen LS, Atkinson JP, Goodship TH. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci USA. 2003;100:12966–71.
12. Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2007;18:2392–400.
13. Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey A, Blouin J, Caudy A, Arzouk N, Cleper R, Francois M, Guest G, Pourrat J, Seligman R, Fridman WH, Loirat C, Atkinson JP. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2006;17:2017–25.
14. Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, Carreras L, Arranz EA, Garrido CA, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Rodriguez de Cordoba S. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci USA. 2007;104:240–5.
15. Fan X, Yoshida Y, Honda S, Matsumoto M, Sawada Y, Hattori M, Hisanaga S, Hiwa R, Nakamura F, Tomomori M, Miyagawa S, Fujimaru R, Yamada H, Sawai T, Ikeda Y, Iwata N, Uemura O, Matsukuma E, Aizawa Y, Harada H, Wada H, Ishikawa E, Ashida A, Nangaku M, Miyata T, Fujimura Y. Analysis of genetic and predisposing factors in Japanese patients with atypical hemolytic uremic syndrome. Mol Immunol. 2013;54:238–46.
16. Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, Loirat C, Pecoraro C, Taylor CM, Van de Kar N, Vandewalle J, Zimmerhackl LB. Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome. Pediatr Nephrol. 2009;24:687–96.
17. Kokame K, Nobe Y, Kokubo Y, Okayama A, Miyata T. FRETS-VWF73, a first fluorogenic substrate for ADAMTS13 assay. Br J Haematol. 2005;129:93–100.
18. Kobayashi T, Wada H, Kamikura Y, Matsumoto T, Mori Y, Kaneko T, Nobori T, Matsumoto M, Fujimura Y, Shiku H. Decreased ADAMTS13 activity in plasma from patients with thrombotic thrombocytopenic purpura. Thromb Res. 2007;119:447–52.
19. Sanchez-Corral P, Gonzalez-Rubio C, Rodriguez de Cordoba S, Lopez-Trascasa M. Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H. Mol Immunol. 2004;41:81–4.
20. Ito N, Wada H, Matsumoto M, Fujimura Y, Murata M, Izuno T, Sugita M, Ikeda Y. National questionnaire survey of TMA. Int J Hematol. 2009;90:328–35.
21. Ito-Habe N, Wada H, Matsumoto M, Fujimura Y, Murata M, Izuno T, Sugita M, Ikeda Y. A second national questionnaire survey of TMA. Int J Hematol. 2010;92:68–75.
22. Zimmerhackl LB, Hofer J, Cortina G, Mark W, Würzner R, Jungraithmayr TC, Khursigara G, Kliche KO, Radauer W. Prophylactic eculizumab after renal transplantation in atypical hemolytic-uremic syndrome. N Engl J Med. 2010;362:1746–8.
23. Gruppo RA, Rother RP. Eculizumab for congenital atypical hemolytic- uremic syndrome. N Engl J Med. 2009;360:544–6.
24. Legendre CM, Licht C, Muus P, Greenbaum LA, Babu S, Bedrosian C, Bingham C, Cohen DJ, Delmas Y, Douglas K, Eitner F, Feldkamp T, Fouque D, Furman RR, Gaber O, Herthelius M, Hourmant M, Karpman D, Lebranchu Y, Mariat C, Menne J, Moulin B, Nürnberger J, Ogawa M, Remuzzi G, Richard T, Sberro-Soussan R, Severino B, Sheerin NS, Trivelli A, Zimmerhackl LB, Goodship T, Loirat C. Terminal complement inhibitor eculizumab in atypical hemolytic-uremic syndrome. N Engl J Med. 2013;368:2169–81.
25. http://www.1000genomes.org/analysis. Accessed 13 Aug 2014.
26. http://cancer.sanger.ac.uk/cosmic/gene/overview?ln=CFH. Accessed 13 Aug 2014.
27. Heinen S, Sanchez-Corral P, Jackson, Strain L, Goodship JA, Kemp EJ, Skerka C, Jokiranta TS, Meyers K, Wagner E, Robitaille P, Esparza-Gordillo J, de Rodriguez Cordoba S, Zipfel PF, Goodship TH. 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;27:292–3.