Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura: Role of factor H abnormalities

Journal of the American Society of Nephrology

Volumn 10, Issue 2, 1999, Pages 281-293

  Noris, Marina ^a   Ruggenenti, Piero ^a,c   Perna, Annalisa ^a   Orisio, Silvia ^a   Caprioli, Jessica ^a   Skerka, Christine ^b   Vasile, Beatrice ^a   Zipfel, Peter F ^b   Remuzzi, Giuseppe ^a  

^a MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

^b BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

^c Center for Organ Transplantation   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC RISK; GENETIC SUSCEPTIBILITY; HEMOLYTIC UREMIC SYNDROME; HUMAN; HYPOCOMPLEMENTEMIA; IDIOPATHIC THROMBOCYTOPENIC PURPURA; MALE; PEDIGREE; PRIORITY JOURNAL; RISK ASSESSMENT; SCHOOL CHILD;

EID: 0032950690     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. Remuzzi G, Ruggenenti P, Bertani T: Thrombotic microangiopathy. In: Renal Pathology With Clinical and Functional Correlations, edited by Tisher CC, Brenner BM, 2nd Ed., Philadelphia, Lippincott, 1994, pp 1154-1184
2. Remuzzi G, Ruggenenti P: The hemolytic uremic syndrome. Kidney Int 47: 2-19, 1995
3. Ruggenenti P, Remuzzi G: The pathophysiology and management of thrombotic thrombocytopenic purpura. Eur J Haematol 56: 191-207, 1996
4. Remuzzi G: HUS and TTP: Variable expression of a single entity. Kidney Int 32: 292-308, 1987
5. Kaplan BS, Kaplan P: Hemolytic uremic syndrome in families. In: Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura, edited by Kaplan BS, Trompeter RS, Moake JL, New York, Marcel Dekker, 1992, pp 213-225
6. Berns JS, Kaplan BS, Mackow RC, Hefter LG: Inherited hemolytic uremic syndrome in adults. Am J Kidney Dis 19: 331-334, 1992
7. Fitzpatrick MM, Dillon MJ, Barratt TM, Trompeter RS: Atypical hemolytic uremic syndrome. In: Hemolytic Uremic Syndrome and Thrombotic Thrombocytopenic Purpura, edited by Kaplan BS, Trompeter RS, Moake JL, New York, Marcel Dekker, 1992, pp 163-178
8. Sheth KJ, Gill JC, Leichter HE, Havens PL, Hunter JB: Increased incidence of HLA-B40 group antigens in children with hemolytic-uremic syndrome. Nephron 68: 433-436, 1994
9. Kirchner KA, Smith RM, Gockerman JP, Luke RG: Hereditary thrombotic thrombocytopenic purpura: Microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurring in consecutive generations. Nephron 30: 28-30, 1982
10. Bergstein J, Michael A Jr, Kjellstrand C, Simmons R, Najarian J: Hemolytic-uremic syndrome in adult sisters. Transplantation 17: 487-489, 1974
11. Pirson Y, Lefebvre C, Arnout C, de Strihou CY: Hemolytic uremic syndrome in three adult siblings: A familial study and evolution. Clin Nephrol 28: 250-255, 1997
12. Carreras L, Romero R, Requesens C, Oliver AJ, Carrera M, Clavo M, Alsina J: Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3, B7 haplotype. JAMA 245: 602-604, 1981
13. Feest TG, Hamilton W, Imong S: Severe ocular and pulmonary manifestations of familial haemolytic uremic syndrome: Possible benefit of bilateral nephrectomy. Proceedings of the 23rd Congress of EDTA-ERA-Budapest, 1986
14. Bukowski RM: Thrombotic thrombocytopenic purpura: A review. In: Progress in Hemostasis and Thrombosis, edited by Spaet TH, New York, Grune & Stratton, 1982, p 287
15. Stuhlinger W, Kourilsky O, Kanfer A, Sraer JD: Haemolyticuraemic syndrome: Evidence for intravascular C3 activation. Lancet ii: 788, 1974
16. Monnens L, Molenaar J, Lambert PH, Proesmans W, van Munster P: The complement system in hemolytic-uremic syndrome in childhood. Clin Nephrol 13: 168-171, 1980
17. Robson WLM, Leung AKC, Fick GH, McKenna AI: Hypocomplementemia and leukocytosis in diarrhea-associated hemolytic uremic syndrome. Nephron 62: 296-299, 1992
18. Kim Y, Miller K, Michael AF: Breakdown products of C3 and factor B in hemolytic-uremic syndrome. J Lab Clin Med 89: 845-850, 1977
19. Zachwieja J, Strzykala K, Golda W, Maciejewski J: Familial, recurrent hemolytic-uremic syndrome with hypocomplementaemia. Pediatr Nephrol 6: 221-222, 1992
20. Landau D, Ohali M, Shalev H, Schlezinger M, Maor E, Carmi R: Immune-mediated pathogenesis of familial hypocomplementemic hemolytic uremic syndrome (HUS) [Abstract]. J Am Soc Nephrol 7: 1616, 1996
21. Pichette V, Quérin S, Schürch W, Brun G, Lehner-Netsch G, Delaghe J-M: Familial hemolytic-uremic syndrome and homozygous factor H deficiency. Am J Kidney Dis 26: 936-941, 1994
22. Roodhooft AM, McLean RH, Elst E, Van Acker KJ: Recurrent hemolytic uremic syndrome and acquired hypomorphic variant of the third component of complement. Pediatr Nephrol 4: 597-599, 1990
23. Thompson RA, Winterborn MH: Hypocomplementaemia due to a genetic deficiency of b1H globulin. Clin Exp Immunol 46: 110-119, 1981
24. Warwicker P, Goodship THJ, Donne RL, Pirson Y, Nicholls A, Ward RM, Turnpenny P, Goodship JA: Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kidney Int 53: 836-844, 1998
25. Zipfel PF, Skerka C: Complement factor H and related proteins: An expanding family of complement-regulatory proteins? Immunol Today 15: 121-126, 1994
26. 1F-globulin from human serum and its characterization as the fifth component of complement. J Exp Med 122: 277-298, 1965
27. Vik DP, Munor-Canoves P, Chaplin DD, Tack BF: Factor H. Curr Top Microbiol 153: 147-160, 1989
28. Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR: Human factor H deficiency: Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. J Biol Chem 272: 25168-25175, 1997
29. Kühn S, Skerka C, Zipfel PF: Mapping of the complement regulatory domains in the human factor H-like protein 1 and factor H. J Immunol 155: 5663-5670, 1995
30. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, 2nd Ed., Cold Spring Harbor, New York, Cold Spring Harbor Laboratory Press, 1989
31. Kyhse-Andersen J: Electroblotting of multiple gels: A simple apparatus without buffer tank for transfer of proteins from polyacrylamine gels. J Biochem Biophys Methods 10: 203-209, 1984
32. 125I-labeled human growth hormone of high specific activity. Biochem J 89: 114, 1963
33. Kendall KG, Stuart A: Inference and relationship. In: The Advanced Theory of Statistics, 3rd Ed., London, Griffin, 1973, pp 323-324
34. Hellman RM, Jackson DV, Buss DH: Thrombotic thrombocytopenic purpura and hemolytic-uremic syndrome in HLA-identical siblings. Ann Intern Med 93: 283-284, 1980
35. Elias M, Horowitz J, Tal I, Kohn D, Flatau E: Thrombotic thrombocytopenic purpura and hemolytic uremic syndrome in three siblings. Arch Dis Child 63: 644-646, 1988
36. McCoy RC, Abramowsky CR, Krueger R: The hemolytic uremic syndrome, with positive immunofluorescence studies. J Pediatr 85: 170-174, 1974
37. Hammar SP, Bloomer HA, McCloskey D: Adult hemolytic uremic syndrome with renal arteriolar deposition of IgM and C3. Am J Clin Pathol 70: 434-439, 1978
38. Bokisch VA, Müller-Eberhard HJ, Cochrane CG: Isolation of a fragment (C3a) of the third component of human complement containing anaphylatoxin and chemotactic activity and description of an anaphylatoxin inactivator of human serum. J Exp Med 129: 1109-1130, 1969
39. Wincklstein JA, Sullivan KE, Colten HR: Biologic consequences of complement activation. In: The Metabolic and Molecular Bases of Inherited Disease, edited by Scriver CR, Beaudet AL, Sly WS, Valle D, 7th Ed., New York, McGraw-Hill, 1995, pp 3911-3941
40. Nicol PAE, Lachmann PJ: The alternate pathway of complement activation: The role of C3 and its inactivator (KAF). Immunology 24: 259-275, 1973
41. Williams DG, Peters DK, Fallows J, Petrie A, Kourilsky O, Morel-Maroger L, Cameron JS: Studies of serum complement in the hypocomplementaemic nephritides. Clin Exp Immunol 18: 391-405, 1974
42. Poskitt TR, Fortwengler HP Jr, Lunskis BJ: Activation of the alternate complement pathway by autologous red cell stroma. J Exp Med 138: 715-722, 1973
43. Thompson RA, Lachmann PJ: A second case of human C3b inhibitor (KAF) deficiency. Clin Exp Immunol 27: 23-29, 1977
44. West CD: Nephritic factors predispose to chronic glomerulonephritis. Am J Kidney Dis 24: 956-963, 1994
45. Rey-Campos J, Rubinstain P, De Cordoba SR: A physical map of the human regulator of complement activation gene cluster linking the complement genes CR1, CR2, DAF and C4PB. J Exp Med 167: 664-669, 1988
46. Tomar RH, Kolchins D: Complement and coagulation: Serum beta-1c-beta-1a in disseminated intravascular coagulation. Thromb Diath Haemorrh 27: 389-395, 1972
47. Kalowski S, Howes EL Jr, Margaretten W, McKay DG: Effects of intravascular clotting on the activation of the complement system: The role of the platelet. Am J Pathol 78: 525-536, 1975