Genetic studies into inherited and sporadic hemolytic uremic syndrome

Kidney International

Volumn 53, Issue 4, 1998, Pages 836-844

  Warwicker, Paul ^b   Goodship, Timothy H J ^a   Donne, Rosemary L ^b   Pirson, Yves ^b   Nicholls, Anthony ^b   Ward, Roy M ^b   Turnpenny, Peter ^b   Goodship, Judith A ^b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NONE

Author keywords

Complement factor H; Genetic linkage; Hemolytic uremic syndrome; Human chromosome 1; Inherited renal disease

Indexed keywords

COMPLEMENT FACTOR H;

ADULT; ARTICLE; CHROMOSOME 1Q; CLINICAL ARTICLE; COMPLEMENT ALTERNATIVE PATHWAY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HEMOLYTIC UREMIC SYNDROME; HUMAN; MALE; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031970553     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.1998.00824.x     Document Type: Article

References (33)

1. REMUZZI G, RUGGENENTI P: The haemolytic uraemic syndrome. Kidney Int 48:2-19, 1995
2. KAPLAN BS, KAPLAN P: Hemolytic uremic syndrome in families, in Hemolytic uremic syndrome and Thrombotic thrombocytopenic purpura. Ed Kaplan BS, Trompeter R, Moake J. Marcel Dekker, Inc. NY. 1992
3. BERNS JS, KAPLAN BS, MACKOW RC, HEFTER G: Inherited hemolytic uremic syndrome in adults. Am J Kid Dis 19:331-334, 1992
4. GASSER C, GAUTIER E, STECK A, SIEBENMANN RE, OECHSLIN R: Hamolytischuramische Syndrome: Bilaterale Nierenrindennekrosen bie akuten erworbenen hamoltischen Anamien. Sweiz Med Wochenschr 85:905-9, 1955
5. REMUZZI G, MARCHESI D, MISIANI R, MECCA G, DE GAETANO G DONATI MB: Familial deficiency of a plasma factor stimulating vascular prostacyclin activity. Thromb Res 16:517-25, 1979
6. MOAKE JL, RUDY CK, TROLL JH, WEINSTEIN MJ, COLANNINO NM, AZOCAR J, SEDER RH, HONG SL, DEYKIN D: Unusually large plasma factor VIII: von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 307:1432-35, 1982
7. BERGSTEIN JM, RILEY M, BANG NU: Role of plasminogen-activator inhibitor type 1 in the pathogenesis and outcome of the haemolytic uraemic syndrome. N Engl J Mol 327:755-59, 1992
8. BENIGNI A, BOCCARDO P, NORIS M, REMUZZI G, SIEGLER R: Urinary excretion of platelet-activating factor in haemolytic uraemic syndrome. Lancet 339:835-36, 1992
9. LIAN EC, SIDDIQUI FA, JAMIESON GA, TANDON NN: Platelet agglutinating protein p37 causes platelet agglutination through its binding to membrane Glycoprotein IV. Thromb Haemost 65:102-6, 1991
10. CAMERON JS, VICK R: Plasma-C3 in haemolytic uraemic syndrome and thrombotic thrombocytopenic purpura. Lancet 2:975, 1973
11. KAPLAN BS, THOMSON PD, MACNAB GM: Serum-complement levels in Haemolytic Uraemic syndrome. Lancet 2:1505-6, 1973
12. MONNENS L, MOLENAAR PH, LAMBERT PH, PROESMANS W, VAN MUNSTER P: The complement system in hemolytic-uremic syndrome. Clin Nephrol 13:168-71, 1980
13. FARR MJ, ROBERTS S, MORLEY AR, DEWAR PJ, ROBERTS DF, ULDALL PR: The haemolytic uraemic syndrome-a family study. Q J Med 44:161-88, 1975
14. EDELSTEN AD, TUCK S: Familial haemolytic uraemic syndrome. Arch Dis Child 53:255-56, 1978
15. PIRSON Y, LEFEBVRE C, ARNOUT C, VAN YPERSELE DE STRIHOU C: Hemolytic uremic syndrome in three adult siblings: a family study and evolution. Clin Nephrol 28:250-55, 1987
16. LATHROP GM, LALOUEL JM, JULIER C, OTT J: Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37:482-98, 1985
17. WARWICKER P, GOODSHIP THJ, GOODSHIP JA: 3 novel polymorphisms in the human complement factor H gene and promoter region. Immunogenetics 46:437-438, 1997
18. TRUEDSSON L, SJOHOLM AG, LAURELL AB: Screening for deficiencies in the classical and alternative pathways of complement by hemolysis in gel. Acta Path Microbiol Scand 89:161-66, 1981
19. THOMPSON RA, WINTERBORN MH: Hypocomplementaemia due to a genetic deficiency of B1H globulin. Clin Exp Immunol 46:110-19, 1981
20. ROODHOOFT AM, MCLEAN RH, ELST E, VAN ACKER KJ: Recurrent hemolytic uremic syndrome and acquired hypomorphic variant of the third component of complement. Pediatric Nephrol 4:597-99, 1990
21. PICHETTE V, QUERIN S, SCHURCH W, BRUN G, LEHNER-NETSCH G. DELAGE J-M: Familial haemolytic-uraemic syndrome and homozygous factor H deficiency. Am J Kidney Dis 24:936-41, 1994
22. ZIPFEL PF, SKERKA C: Complement factor H and related proteins: an expanding family of complement-regulatory proteins? Immunol Today 15:121-26, 1994
23. SIM RB, KOLBLE K, MCALEER MA, DOMINGUEZ O, DEE VM: Genetics and deficiencies of the soluble regulatory proteins of the Complement system. Intent Rev Immunol 10:65-86, 1993
24. WEILER JM, DAHA MR, AUSTEN KF, FEARON DT: Control of the amplification convertase of complement by the plasma protein B1H. Proc Natl Acad Sci USA 73:3268-72, 1976
25. PANGBURN MK, SCHREIBER RD, MULLER-EBERHARD HJ: Human complement C3b inactivator: isolation, characterisation, and demonstration of an absolute requirement for the serum protein B1H for cleavage of C3b and C4b in solution. J Exp Med 147:257-70, 1977
26. MERI S, PANGBURN MK: Discrimination between activators and non-activators of the alternative pathway of complement; regulation via a sialic acid/polyanion binding site on factor H. Proc Natl Acad Sci USA 87:3482-86, 1990
27. KUHN S, SKERKA C, ZIPFEL PF: Mapping of the complement regulatory domains in the human factor H-like protein 1 and in factor H. J Immunol 155:5663-70, 1995
28. REID B, DAY AJ: Structure-function relationships of the complement components. Immunol Today 10:177-80, 1989
29. SHARMA AJ, PANGBURN MK: Identification of three physically and functionally distinct binding sites for C3b in human complement factor H by deletion mutagenesis. Proc Natl Acad Sci USA 93:10996-11001, 1996
30. JANSEN JH, HOGASEN K, HARBOE M, GRONDAHL AM, MOLLNES TE: Factor H deficiency in pigs is an autosomal recessive disorder consistently leading to lethal membranoproliferative glomerulonephritis (MPGN) type II. Clin Exp Immunol 97:(suppl2) 29, 1994
31. ROBSON WL, LEUNG AK, FICK GH, MCKENNA AI: Hypocomplementemia and leukocytosis in diarrhea-associated hemolytic uremic syndrome. Nephron 62:296-99, 1992
32. RIPOCHE J, DAY AJ, HARRIS TJR, SIM RB: The complete amino acid sequence of human complement factor H. Biochem J 249:593-602, 1988
33. 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