Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome

Blood

Volumn 112, Issue 12, 2008, Pages 4542-4545

  Fakhouri, Fadi ^a,d   Jablonski, Mathieu ^a   Lepercq, Jacques ^b   Blouin, Jacques ^c   Benachi, Alexandra ^d   Hourmant, Maryvonne ^e   Pirson, Yves ^f   Dürrbach, Antoine ^g   Grünfeld, Jean Pierre ^a   Knebelmann, Bertrand ^a   Frémeaux Bacchi, Véronique ^c,h  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e NANTES UNIVERSITY HOSPITAL   (France)

^f UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^g BICÊTRE HOSPITAL   (France)

^h CENTRE DE RECHERCHE DES CORDELIERS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C3; COMPLEMENT COMPONENT C4; COMPLEMENT FACTOR H; COMPLEMENT FACTOR I; CREATININE; FIBRINOGEN; LACTATE DEHYDROGENASE; MEMBRANE COFACTOR PROTEIN; COMPLEMENT;

ACUTE KIDNEY FAILURE; ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ANGIOGENESIS; ARTICLE; CHRONIC KIDNEY FAILURE; CLINICAL ARTICLE; COMPLEMENT ACTIVATION; CREATININE BLOOD LEVEL; CREATININE CLEARANCE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; HELLP SYNDROME; HEMODIALYSIS; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPERCOAGULABILITY; IMMUNOREGULATION; KIDNEY TRANSPLANTATION; LACTATE DEHYDROGENASE BLOOD LEVEL; LIVER HEMATOMA; MATERNAL HYPERTENSION; MISSENSE MUTATION; PLASMAPHERESIS; PREECLAMPSIA; PRIORITY JOURNAL; THROMBOSIS; CLINICAL TRIAL; GENETIC PREDISPOSITION; GENETICS; GESTATIONAL AGE; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; PREGNANCY; RISK FACTOR;

ADULT; ANTIGENS, CD46; COMPLEMENT FACTOR H; COMPLEMENT SYSTEM PROTEINS; DNA MUTATIONAL ANALYSIS; FEMALE; FIBRINOGEN; GENETIC PREDISPOSITION TO DISEASE; GESTATIONAL AGE; HELLP SYNDROME; HUMANS; MUTATION, MISSENSE; PREGNANCY; RISK FACTORS; YOUNG ADULT;

EID: 57649241639     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-03-144691     Document Type: Article

References (26)

1. Sibai B, Dekker G, Kupferminc M. Pre-eclampsia. Lancet. 2005;365:785-799.
2. Levine RJ, Maynard SE, Qian C, et al. Circulating angiogenic factors and the risk of preeclampsia. N Engl J Med. 2004;350:672-683.
3. Venkatesha S, Toporsian M, Lam C, et al. Soluble endoglin contributes to the pathogenesis of pre-eclampsia. Nat Med. 2006;12:642-649.
4. Abraham KA, Kennelly M, Dorman AM, Walshe JJ. Pathogenesis of acute renal failure associated with the HELLP syndrome: a case report and review of the literature. Eur J Obstet Gynecol Reprod Biol. 2003;108:99-102.
5. Fakhouri F, Fremeaux-Bacchi V. Does hemolytic uremic syndrome differ from thrombotic thrombo-cytopenic purpura? Nat Clin Pract Nephrol. 2007; 3:679-687.
6. Lattuada A, Rossi E, Calzarossa C, Candolfi R, Mannucci PM. Mild to moderate reduction of a von Willebrand factor cleaving protease (ADAMTS-13) in pregnant women with HELLP microangiopathic syndrome. Haematologica. 2003;88:1029-1034.
7. Fremeaux-Bacchi V, Moulton EA, Kavanagh D, et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2006;17:2017-2025.
8. Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, et al. Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004;41:e84.
9. Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, et al. Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulone-phritis: report and genetic analysis of 16 cases. JAm Soc Nephrol. 2004;15:787-795.
10. Kavanagh D, Richards A, Noris M, et al. Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome. Mol Immunol. 2008;45:95-105.
11. Fang CJ, Fremeaux-Bacchi V, Liszewski MK, et al. Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis and the HELLP syndrome. Blood. 2008;111:624-632.
12. Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J, 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;104:240-245.
13. Dragon-Durey MA, Loirat C, Cloarec S, et al. Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16:555-563.
14. Dragon-Durey MA, Fremeaux-Bacchi V. Atypical haemolytic uraemic syndrome and mutations in complement regulator genes. Springer Semin Immun. 2005;27:359-374.
15. Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, et al. Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. JAm Soc Nephrol. 2007;18:2392-2400.
16. Caprioli J, Noris M, Brioschi S, et al. International Registry of Recurrent and Familial HUS/TTP: Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006;108:1267-1279.
17. Girardi G, Yarilin D, Thurman JM, Holers VM, Salmon JE. Complement activation induces dys-regulation of angiogenic factors and causes fetal rejection and growth restriction. J Exp Med. 2006; 203:2165-2175.
18. Redecha P, Tilley R, Tencati M, et al. Tissue factor: a link between C5a and neutrophil activation in antiphospholipid antibody induced fetal injury. Blood. 2007;110:2423-2431.
19. Cavazzana I, Manuela N, Irene C, et al. Complement activation in anti-phospholipid syndrome: a clue for an inflammatory process? J Autoimmun. 2007;28:160-164.
20. Sibai BM, Ramadan MK, Usta I, Salama M, Mercer BM, Friedman SA. Maternal morbidity and mortality in 442 pregnancies with hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome). Am J Obstet Gynecol. 1993;169: 1000-1006.
21. Haddad B, Barton JR, Livingston JC, Chahine R, Sibai BM. HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome versus severe preeclampsia: onset at < or = 28.0 weeks' gestation. Am J Obstet Gynecol. 2000; 183:1475-1479.
22. Abraham KA, Connolly G, Farrell J, Walshe JJ. The HELLP syndrome, a prospective study. Ren Fail. 2001;23:705-713.
23. Celik C, Gezginç K, Altintepe L, et al. Results of the pregnancies with HELLP syndrome. Ren Fail. 2003;25:613-618.
24. Ch'ng CL, Morgan M, Hainsworth I, Kingham JG. Prospective study of liver dysfunction in pregnancy in Southwest Wales. Gut. 2002;51:876-880.
25. Pereira SP, O'Donohue J, Wendon J, Williams R. Maternal and perinatal outcome in severe pregnancy-related liver disease. Hepatology. 1997;26: 1258-1262.
26. Martin JN Jr, Rose CH, Briery CM. Understanding and managing HELLP syndrome: the integral role of aggressive glucocorticoids for mother and child. Am J Obstet Gynecol. 2006;195:914-934.