Genetics of hemolytic uremic syndromes

Presse Medicale

Volumn 41, Issue 3 PART 2, 2012, Pages

  Malina, Michal ^a,b   Roumenina, Lubka T ^c   Seeman, Tomáš ^b   Le Quintrec, Moglie ^c   Dragon Durey, Marie Agnes ^d   Schaefer, Franz ^a   Fremeaux Bacchi, Véronique ^d  

^a Division of Pediatric Nephrology   (Germany)

^b CHARLES UNIVERSITY   (Czech Republic)

^c CENTRE DE RECHERCHE DES CORDELIERS   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; AUTOANTIBODY; CLASSICAL COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT FACTOR H; COMPLEMENT FACTOR H ANTIBODY; COMPLEMENT FACTOR I; MEMBRANE COFACTOR PROTEIN; SHIGA TOXIN; THROMBOMODULIN; UNCLASSIFIED DRUG;

ACUTE KIDNEY FAILURE; ATYPICAL HEMOLYTIC UREMIC SYNDROME; CHRONIC KIDNEY DISEASE; COMPLEMENT ACTIVATION; DISEASE CLASSIFICATION; ESCHERICHIA COLI INFECTION; GENE LOSS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; HEMODIALYSIS; HEMOLYSIS; HEMOLYTIC UREMIC SYNDROME; HUMAN; INNATE IMMUNITY; KIDNEY TRANSPLANTATION; MOLECULAR DIAGNOSIS; PATHOPHYSIOLOGY; PREGNANCY ASSOCIATED HEMOLYTIC UREMIC SYNDROME; PREGNANCY DISORDER; RECURRENT DISEASE; SECONDARY HEMOLYTIC UREMIC SYNDROME; SHIGA TOXIN PRODUCING ESCHERICHIA COLI; SHORT SURVEY; THROMBOCYTOPENIA; THROMBOTIC THROMBOCYTOPENIC PURPURA; TYPICAL HEMOLYTIC UREMIC SYNDROME;

EID: 84857439246     PISSN: 07554982     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lpm.2011.10.028     Document Type: Short Survey

References (47)

1. Gasser C., Gautier E., Steck A., Siebenmann R., Oechslin R., et al. Hemolytic-uremic syndrome: bilateral necrosis of the renal cortex in acute acquired hemolytic anemia. Schweiz Med Wochenschr 1955, 85(38-39):905-909.
2. Moschcowitz E. An acute febrile pleiochromic anemia with hyaline thrombosis of the terminal arterioles and capillaries: an undescribed disease. 1925. Mt Sinai J Med 2003, 70(5):352-355.
3. Symmers W.S. Thrombotic microangiopathic haemolytic anaemia (thrombotic microangiopathy). Br Med J 1952, 2(4790):897-903.
4. Mark Taylor C. Enterohaemorrhagic Escherichia coli and Shigella dysenteriae type 1-induced haemolytic uraemic syndrome. Pediatr Nephrol 2008, 23(9):1425-1431.
5. Tarr P.I., Gordon C.A., Chandler W.L. Shiga-toxin-producing Escherichia coli and haemolytic uraemic syndrome. Lancet 2005, 365(9464):1073-1086.
6. Blahova K., Janda J., Kreisinger J., Matejková E., Sedivá A., et al. Long-term follow-up of Czech children with D+ hemolytic-uremic syndrome. Pediatr Nephrol 2002, 17(6):400-403.
7. Copelovitch L., Kaplan B.S. Streptococcus pneumoniae-associated hemolytic uremic syndrome. Pediatr Nephrol 2008, 23(11):1951-1956.
8. Allen U., Licht C. Pandemic H1N1 influenza A infection and (atypical) HUS-more than just another trigger?. Pediatr Nephrol 2010, 26(1):3-5.
9. Lesesne J.B., Rothschild N., Erickson B., Korec S., Sisk R., Keller J., et al. Cancer-associated hemolytic-uremic syndrome: analysis of 85 cases from a national registry. J Clin Oncol 1989, 7(6):781-789.
10. Zakarija A., Bennett C. Drug-induced thrombotic microangiopathy. Semin Thromb Hemost 2005, 31(6):681-690.
11. Sharma A.P., Greenberg C.R., Prasad A.N., Prasad C. Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. Pediatr Nephrol 2007, 22(12):2097-2103.
12. Noris M., Remuzzi G. Atypical hemolytic-uremic syndrome. N Engl J Med 2009, 361(17):1676-1687.
13. 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(10):1844-1859.
14. Besbas N., Karpman D., Landau D., Loirat C., Proesmans W., Remuzzi G., et al. A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kidney Int 2006, 70(3):423-431.
15. Cameron J.S., Vick R. Letter: plasma-C3 in haemolytic-uraemic syndrome and thrombotic thrombocytopenic purpura. Lancet 1973, 2(7835):975.
16. Stuhlinger W., Kourilsky O., Kanfer A., Sraer J.D. Letter: haemolytic-uraemic syndrome: evidence for intravascular C3 activation. Lancet 1974, 2(7883):788-789.
17. Landau D., Shalev H., Levy-Finer G., Polonsky A., Segev Y., Katchko L., et al. Familial hemolytic uremic syndrome associated with complement factor H deficiency. J Pediatr 2001, 138(3):412-417.
18. Karpman D., Sartz L., Johnson S. Pathophysiology of typical hemolytic uremic syndrome. Semin Thromb Hemost 2010, 36(6):575-585.
19. Orth D., Wurzner R. Complement in typical hemolytic uremic syndrome. Semin Thromb Hemost 2010, 36(6):620-624.
20. Lapeyraque A.L., Malina M., Fremeaux-Bacchi V., Boppel T., Kirschfink M., Oualha M., et al. Eculizumab in severe Shiga-toxin-associated HUS. N Engl J Med 2011, 364(26):2561-2563. Epub 2011 May 25.
21. Ricklin D., Hajishengallis G., Yang K., Lambris J.D., et al. Complement: a key system for immune surveillance and homeostasis. Nat Immunol 2010, 11(9):785-797.
22. Cameron J.S., Turner D.R., Heaton J., Williams D.G., Ogg C.S., Chantler C., et al. Idiopathic mesangiocapillary glomerulonephritis. Comparison of types I and II in children and adults and long-term prognosis. Am J Med 1983, 74(2):175-192.
23. Thompson R.A., Winterborn M.H. Hypocomplementaemia due to a genetic deficiency of beta 1H globulin. Clin Exp Immunol 1981, 46(1):110-119.
24. Warwicker P., Goodship T.H., Donne R.L., Pirson Y., Nicholls A., Ward R.M., et al. Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int 1998, 53(4):836-844.
25. 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(1-2):8-26.
26. Esparza-Gordillo J., Jorge E.G., Garrido C.A., Carreras L., López-Trascasa M., Sánchez-Corral P., et al. Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. Mol Immunol 2006, 43(11):1769-1775.
27. Zoja C., Buelli S., Morigi M. Shiga toxin-associated hemolytic uremic syndrome: pathophysiology of endothelial dysfunction. Pediatr Nephrol 2010, 25(11):2231-2240.
28. Thurman J.M., Marians R., Emlen W., Wood S., Smith C., Akana H., et al. Alternative pathway of complement in children with diarrhea-associated hemolytic uremic syndrome. Clin J Am Soc Nephrol 2009, 4(12):1920-1924.
29. Fakhouri F., Roumenina L., Provot F., Sallée M., Caillard S., Couzi L., et al. Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations. J Am Soc Nephrol 2010, 21(5):859-867.
30. Le Quintrec M., Roumenina L., Noris M., Frémeaux-Bacchi V., et al. Atypical hemolytic uremic syndrome associated with mutations in complement regulator genes. Semin Thromb Hemost 2010, 36(6):641-652.
31. Maga T.K., et al. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat 2010, 31(6):E1445-E1460.
32. Dragon-Durey M.A., Nishimura C.J., Weaver A.E., Frees K.L., Smith R.J. Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS. Semin Thromb Hemost 2010, 36(6):633-640.
33. Loirat C., Garnier A., Sellier-Leclerc A.L., Kwon T. Plasmatherapy in atypical hemolytic uremic syndrome. Semin Thromb Hemost 2010, 36(6):673-681.
34. Zuber J., Le Quintrec M., Sberro-Soussan R., Loirat C., Frémeaux-Bacchi V., Legendre C., et al. New insights into postrenal transplant hemolytic uremic syndrome. Nat Rev Nephrol 2010, 7(1):23-35.
35. Said T., Al-Otaibi T., Al-Wahaib S., Francis I., Nair M.P., Halim M.A., et al. Post-transplantation calcineurin inhibitor-induced hemolytic uremic syndrome: single-center experience. Transplant Proc 2010, 42(3):814-816.
36. Le Quintrec M., Lionet A., Kamar N., Karras A., Barbier S., Buchler M., et al. Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. Am J Transplant 2008, 8(8):1694-1701.
37. Fang C.J., Fremeaux-Bacchi V., Liszewski M.K., Pianetti G., Noris M., Goodship T.H., et al. Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome. Blood 2008, 111(2):624-632.
38. Taranta A., Gianviti A., Palma A., De Luca V., Mannucci L., Procaccino M.A., et al. Genetic risk factors in typical haemolytic uraemic syndrome. Nephrol Dial Transplant 2009, 24(6):1851-1857.
39. Dragon-Durey M.A., Loirat C., Cloarec S., Macher M.A., Blouin J., Nivet H., et al. Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 2005, 16(2):555-563.
40. Fremeaux-Bacchi V., Dragon-Durey M.A., Blouin J., Vigneau C., Kuypers D., Boudailliez B., et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet 2004, 41(6):e84.
41. Bienaime F., Dragon-Durey M.A., Regnier C.H., Nilsson S.C., Kwan W.H., Blouin J., et al. Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome. Kidney Int 2010, 77(4):339-349.
42. Richards A., Dragon-Durey M.A., Regnier C.H., Nilsson S.C., Kwan W.H., Blouin J., et al. Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci U S A 2003, 100(22):12966-12971.
43. Fremeaux-Bacchi V., Kemp E.J., Goodship J.A., Dragon-Durey M.A., Strain L., Loirat C., et al. The development of atypical HUS is influenced by susceptibility factors in factor H and membrane cofactor protein-evidence from two independent cohorts. J Med Genet 2005, 42(11):852-856.
44. Goicoechea de Jorge E., Harris C.L., Esparza-Gordillo J., Carreras L., Arranz E.A., Garrido C.A., et al. Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. Proc Natl Acad Sci U S A 2007, 104(1):240-245.
45. Roumenina L.T., Jablonski M., Hue C., Blouin J., Dimitrov J.D., Dragon-Durey M.A., et al. Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome. Blood 2009, 14(13):2837-2845.
46. Fremeaux-Bacchi V., Miller E.C., Liszewski M.K., Strain L., Blouin J., Brown A.L., et al. Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 2008, 112(13):4948-4952.
47. Delvaeye M., Noris M., De Vriese A., Esmon C.T., Esmon N.L., Ferrell G., et al. Thrombomodulin mutations in atypical hemolytic-uremic syndrome. N Engl J Med 2009, 361(4):345-357.