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 page: 81
|
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.
|
|
|
|
|
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|