메뉴 건너뛰기




Volumn 2012, Issue , 2012, Pages

Familial atypical hemolytic uremic syndrome: A review of its genetic and clinical aspects

Author keywords

[No Author keywords available]

Indexed keywords

CLASSICAL COMPLEMENT PATHWAY C3 C5 CONVERTASE; COMPLEMENT COMPONENT C3A; COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; COMPLEMENT FACTOR H RECEPTOR; COMPLEMENT FACTOR I; COMPLEMENT RECEPTOR; ECULIZUMAB; FRESH FROZEN PLASMA; HAPTOGLOBIN; HEMOGLOBIN; LACTATE DEHYDROGENASE; MEMBRANE COFACTOR PROTEIN; UNCLASSIFIED DRUG; COMPLEMENT;

EID: 84870161177     PISSN: 17402522     EISSN: 17402530     Source Type: Journal    
DOI: 10.1155/2012/370426     Document Type: Review
Times cited : (32)

References (60)
  • 1
    • 70350279315 scopus 로고    scopus 로고
    • Atypical hemolytic-uremic syndrome
    • 2-s2.0-70350279315
    • Noris M., Remuzzi G., Atypical hemolytic-uremic syndrome. The New England Journal of Medicine 2009 361 17 1675 1687 2-s2.0-70350279315
    • (2009) The New England Journal of Medicine , vol.361 , Issue.17 , pp. 1675-1687
    • Noris, M.1    Remuzzi, G.2
  • 8
    • 77950428338 scopus 로고    scopus 로고
    • AHUS: A disorder with many risk factors
    • 2-s2.0-77950428338 10.1182/blood-2009-11-252627
    • de Córdoba S. R., AHUS: a disorder with many risk factors. Blood 2010 115 2 158 160 2-s2.0-77950428338 10.1182/blood-2009-11-252627
    • (2010) Blood , vol.115 , Issue.2 , pp. 158-160
    • De Córdoba, S.R.1
  • 9
    • 84862780165 scopus 로고    scopus 로고
    • Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation
    • Brown J. H., Tellez J., Wilson V., Postpartum aHUS secondary to a genetic abnormality in factor H acquired through liver transplantation. American Journal of Transplantation 2012 12 6 1632 1636
    • (2012) American Journal of Transplantation , vol.12 , Issue.6 , pp. 1632-1636
    • Brown, J.H.1    Tellez, J.2    Wilson, V.3
  • 10
    • 70349437186 scopus 로고    scopus 로고
    • Complement regulators and inhibitory proteins
    • 2-s2.0-70349437186 10.1038/nri2620
    • Zipfel P. F., Skerka C., Complement regulators and inhibitory proteins. Nature Reviews Immunology 2009 9 10 729 740 2-s2.0-70349437186 10.1038/nri2620
    • (2009) Nature Reviews Immunology , vol.9 , Issue.10 , pp. 729-740
    • Zipfel, P.F.1    Skerka, C.2
  • 11
    • 0036748150 scopus 로고    scopus 로고
    • Which came first, the lectin/classical pathway or the alternative pathway of complement?
    • Dodds A. W., Which came first, the lectin/classical pathway or the alternative pathway of complement? Immunobiology 2002 205 4-5 340 354 2-s2.0-0036748150 (Pubitemid 35153952)
    • (2002) Immunobiology , vol.205 , Issue.4-5 , pp. 340-354
    • Dodds, A.W.1
  • 12
    • 0018590717 scopus 로고
    • Activation of the complement system by antibody-antigen complexes: The classical pathway
    • 2-s2.0-0018590717 10.1016/S0065-3233(08)60458-1
    • Porter R. R., Reid K. B. M., Activation of the complement system by antibody-antigen complexes: the classical pathway. Advances in Protein Chemistry 1979 33 1 71 2-s2.0-0018590717 10.1016/S0065-3233(08)60458-1
    • (1979) Advances in Protein Chemistry , vol.33 , pp. 1-71
    • Porter, R.R.1    Reid, K.B.M.2
  • 13
    • 0029938895 scopus 로고    scopus 로고
    • The lectin pathway of complement activation
    • DOI 10.1016/0923-2494(96)87184-7
    • Turner M. W., The lectin pathway of complement activation. Research in Immunology 1996 147 2 110 115 2-s2.0-0029938895 10.1016/0923-2494(96)87184-7 (Pubitemid 26180574)
    • (1996) Research in Immunology , vol.147 , Issue.2 , pp. 110-115
    • Turner, M.W.1
  • 14
    • 0030443077 scopus 로고    scopus 로고
    • The lectin pathway of the complement system
    • Matsushita M., The lectin pathway of the complement system. Microbiology and Immunology 1996 40 12 887 893 2-s2.0-0030443077 (Pubitemid 27014313)
    • (1996) Microbiology and Immunology , vol.40 , Issue.12 , pp. 887-893
    • Matsushita, M.1
  • 15
    • 47249120139 scopus 로고    scopus 로고
    • The spectrum of complement alternative pathway-mediated diseases
    • DOI 10.1111/j.1600-065X.2008.00641.x
    • Holers V. M., The spectrum of complement alternative pathway-mediated diseases. Immunological Reviews 2008 223 1 300 316 2-s2.0-47249120139 10.1111/j.1600-065X.2008.00641.x (Pubitemid 351986186)
    • (2008) Immunological Reviews , vol.223 , Issue.1 , pp. 300-316
    • Holers, V.M.1
  • 16
  • 17
    • 57649143877 scopus 로고    scopus 로고
    • Inhibiting complement activation on cells at the step of C3 cleavage
    • 2-s2.0-57649143877 10.1016/j.vaccine.2008.11.001
    • Liszewski M. K., Fang C. J., Atkinson J. P., Inhibiting complement activation on cells at the step of C3 cleavage. Vaccine 2008 26, supplement 8 I22 I27 2-s2.0-57649143877 10.1016/j.vaccine.2008.11.001
    • (2008) Vaccine , vol.268
    • Liszewski, M.K.1    Fang, C.J.2    Atkinson, J.P.3
  • 18
    • 84934436430 scopus 로고    scopus 로고
    • Conformational complexity of complement component C3
    • 2-s2.0-33751036565 10.1007/0-387-34134-X-20
    • Janssen B. J. C., Gros P., Conformational complexity of complement component C3. Advances in Experimental Medicine and Biology 2006 586 291 312 2-s2.0-33751036565 10.1007/0-387-34134-X-20
    • (2006) Advances in Experimental Medicine and Biology , vol.586 , pp. 291-312
    • Janssen, B.J.C.1    Gros, P.2
  • 19
    • 77955965634 scopus 로고    scopus 로고
    • Multiple interactions of complement factor h with its ligands in solution: A progress report
    • 2-s2.0-77955965634 10.1007/978-1-4419-5635-43
    • Perkins S. J., Nan R., Okemefuna A. I., Li K., Khan S., Miller A., Multiple interactions of complement factor h with its ligands in solution: a progress report. Advances in Experimental Medicine and Biology 2010 703 25 47 2-s2.0-77955965634 10.1007/978-1-4419-5635-43
    • (2010) Advances in Experimental Medicine and Biology , vol.703 , pp. 25-47
    • Perkins, S.J.1    Nan, R.2    Okemefuna, A.I.3    Li, K.4    Khan, S.5    Miller, A.6
  • 20
    • 57649230771 scopus 로고    scopus 로고
    • Complement factor H related proteins in immune diseases
    • 2-s2.0-57649230771 10.1016/j.vaccine.2008.11.021
    • Skerka C., Zipfel P. F., Complement factor H related proteins in immune diseases. Vaccine 2008 26, supplement 8 I9 I14 2-s2.0-57649230771 10.1016/j.vaccine.2008.11.021
    • (2008) Vaccine , vol.268
    • Skerka, C.1    Zipfel, P.F.2
  • 21
    • 0036865356 scopus 로고    scopus 로고
    • Structure and function of complement C5 convertase enzymes
    • DOI 10.1042/BST0301006
    • Pangburn M. K., Rawal N., Structure and function of complement C5 convertase enzymes. Biochemical Society Transactions 2002 30 6 1006 1010 2-s2.0-0036865356 10.1042/BST0301006 (Pubitemid 36002396)
    • (2002) Biochemical Society Transactions , vol.30 , Issue.6 , pp. 1006-1010
    • Pangburn, M.K.1    Rawal, N.2
  • 22
    • 0033064619 scopus 로고    scopus 로고
    • Regulation of the complement membrane attack pathway
    • Morgan B. P., Regulation of the complement membrane attack pathway. Critical Reviews in Immunology 1999 19 3 173 198 2-s2.0-0033064619 (Pubitemid 29321438)
    • (1999) Critical Reviews in Immunology , vol.19 , Issue.3 , pp. 173-198
    • Morgan, B.P.1
  • 25
    • 80052853553 scopus 로고    scopus 로고
    • Do complement factor H 402Y and C7 M allotypes predispose to (typical) haemolytic uraemic syndrome?
    • 2-s2.0-79957957687 10.1111/j.1744-313X.2011.01017.x
    • Poolpol K., Gadner B., Neururer S., Mellmann A., Karch H., Orth D., Würzner R., Do complement factor H 402Y and C7 M allotypes predispose to (typical) haemolytic uraemic syndrome? International Journal of Immunogenetics 2011 38 5 383 387 2-s2.0-79957957687 10.1111/j.1744-313X.2011.01017.x
    • (2011) International Journal of Immunogenetics , vol.38 , Issue.5 , pp. 383-387
    • Poolpol, K.1    Gadner, B.2    Neururer, S.3    Mellmann, A.4    Karch, H.5    Orth, D.6    Würzner, R.7
  • 26
    • 0013833869 scopus 로고
    • Fatal haemolytic uraemic syndrome and idiopathic hyperlipaemia in monozygotic twins
    • 2-s2.0-0013833869
    • Campbell S., Carré I. J., Fatal haemolytic uraemic syndrome and idiopathic hyperlipaemia in monozygotic twins. Archives of Disease in Childhood 1965 40 214 654 658 2-s2.0-0013833869
    • (1965) Archives of Disease in Childhood , vol.40 , Issue.214 , pp. 654-658
    • Campbell, S.1    Carré, I.J.2
  • 30
    • 0242601270 scopus 로고    scopus 로고
    • Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: The C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
    • DOI 10.1093/hmg/ddg363
    • Caprioli J., Castelletti F., Bucchioni S., Bettinaglio P., Bresin E., Pianetti G., Gamba S., Brioschi S., Daina E., Remuzzi G., Noris M., Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease. Human Molecular Genetics 2003 12 24 3385 3395 2-s2.0-0242601270 10.1093/hmg/ddg363 (Pubitemid 37541083)
    • (2003) Human Molecular Genetics , vol.12 , Issue.24 , pp. 3385-3395
    • Caprioli, J.1    Castelletti, F.2    Bucchioni, S.3    Bettinaglio, P.4    Bresin, E.5    Pianetti, G.6    Gamba, S.7    Brioschi, S.8    Daina, E.9    Remuzzi, G.10    Noris, M.11
  • 31
  • 32
    • 77957575143 scopus 로고    scopus 로고
    • Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome
    • 2-s2.0-77957575143 10.1038/ki.2010.275
    • Hakobyan S., Tortajada A., Harris C. L., De Córdoba S. R., Morgan B. P., Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome. Kidney International 2010 78 8 782 788 2-s2.0-77957575143 10.1038/ki.2010.275
    • (2010) Kidney International , vol.78 , Issue.8 , pp. 782-788
    • Hakobyan, S.1    Tortajada, A.2    Harris, C.L.3    De Córdoba, S.R.4    Morgan, B.P.5
  • 36
    • 84863338297 scopus 로고    scopus 로고
    • Complement factor H genetic variant and age-related macular degeneration: Effect size, modifiers and relationship to disease subtype
    • Sofat R., Casas J. P., Webster A. R., Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. International Journal of Epidemiology 2012 41 1 250 262
    • (2012) International Journal of Epidemiology , vol.41 , Issue.1 , pp. 250-262
    • Sofat, R.1    Casas, J.P.2    Webster, A.R.3
  • 37
    • 84864554927 scopus 로고    scopus 로고
    • Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies
    • Servais A., Noël L. H., Roumenina L. T., Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies. Kidney International 2012 82 4 454 464
    • (2012) Kidney International , vol.82 , Issue.4 , pp. 454-464
    • Servais, A.1    Noël, L.H.2    Roumenina, L.T.3
  • 38
    • 84855862414 scopus 로고    scopus 로고
    • A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome
    • Francis N. J., McNicholas B., Awan A., A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood 2012 119 2 591 601
    • (2012) Blood , vol.119 , Issue.2 , pp. 591-601
    • Francis, N.J.1    McNicholas, B.2    Awan, A.3
  • 39
    • 79955477674 scopus 로고    scopus 로고
    • CD46 in innate and adaptive immunity: An update
    • 2-s2.0-79955477674 10.1111/j.1365-2249.2011.04400.x
    • Cardone J., Le Friec G., Kemper C., CD46 in innate and adaptive immunity: an update. Clinical and Experimental Immunology 2011 164 3 301 311 2-s2.0-79955477674 10.1111/j.1365-2249.2011.04400.x
    • (2011) Clinical and Experimental Immunology , vol.164 , Issue.3 , pp. 301-311
    • Cardone, J.1    Le Friec, G.2    Kemper, C.3
  • 41
    • 0242570482 scopus 로고    scopus 로고
    • Familial haemolytic uraemic syndrome and an MCP mutation
    • DOI 10.1016/S0140-6736(03)14742-3
    • Noris M., Brioschi S., Caprioli J., Todeschini M., Bresin E., Porrati F., Gamba S., Remuzzi G., Familial haemolytic uraemic syndrome and an MCP mutation. The Lancet 2003 362 9395 1542 1547 2-s2.0-0242570482 10.1016/S0140-6736(03) 14742-3 (Pubitemid 37410193)
    • (2003) Lancet , vol.362 , Issue.9395 , pp. 1542-1547
    • Noris, M.1    Brioschi, S.2    Caprioli, J.3    Todeschini, M.4    Bresin, E.5    Porrati, F.6    Gamba, S.7    Remuzzi, G.8
  • 43
    • 33644964155 scopus 로고    scopus 로고
    • Insights into hemolytic uremic syndrome: Segregation of three independent predisposition factors in a large, multiple affected pedigree
    • 2-s2.0-33644964155 10.1016/j.molimm.2005.11.008
    • Esparza-Gordillo J., Jorge E. G. D., Garrido C. A., Carreras L., López-Trascasa M., Sánchez-Corral P., De Córdoba S. R., Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. Molecular Immunology 2006 43 11 1769 1775 2-s2.0-33644964155 10.1016/j.molimm.2005.11.008
    • (2006) Molecular Immunology , vol.43 , Issue.11 , pp. 1769-1775
    • Esparza-Gordillo, J.1    Jorge, E.G.D.2    Garrido, C.A.3    Carreras, L.4    López-Trascasa, M.5    Sánchez-Corral, P.6    De Córdoba, S.R.7
  • 44
    • 83655163908 scopus 로고    scopus 로고
    • Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP
    • 2-s2.0-79959435717 10.1007/s00467-011-1943-5
    • Provaznikova D., Rittich S., Malina M., Seeman T., Marinov I., Riedl M., Hrachovinova I., Manifestation of atypical hemolytic uremic syndrome caused by novel mutations in MCP. Pediatric Nephrology 2012 27 1 73 81 2-s2.0-79959435717 10.1007/s00467-011-1943-5
    • (2012) Pediatric Nephrology , vol.27 , Issue.1 , pp. 73-81
    • Provaznikova, D.1    Rittich, S.2    Malina, M.3    Seeman, T.4    Marinov, I.5    Riedl, M.6    Hrachovinova, I.7
  • 45
    • 27844526064 scopus 로고    scopus 로고
    • Emerging roles and new functions of CD46
    • DOI 10.1007/s00281-005-0002-3
    • Liszewski M. K., Kemper C., Price J. D., Atkinson J. P., Emerging roles and new functions of CD46. Springer Seminars in Immunopathology 2005 27 3 345 358 2-s2.0-27844526064 10.1007/s00281-005-0002-3 (Pubitemid 41639886)
    • (2005) Springer Seminars in Immunopathology , vol.27 , Issue.3 , pp. 345-358
    • Liszewski, M.K.1    Kemper, C.2    Price, J.D.3    Atkinson, J.P.4
  • 46
    • 33751035523 scopus 로고    scopus 로고
    • Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome
    • DOI 10.1016/j.molimm.2006.07.004, PII S0161589006002380
    • Richards A., Kathryn Liszewski M., Kavanagh D., Fang C. J., Moulton E., Frémeaux-Bacchi V., Remuzzi G., Noris M., Goodship T. H. J., Atkinson J. P., Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. Molecular Immunology 2007 44 1-3 111 122 2-s2.0-33751035523 10.1016/j.molimm.2006.07.004 (Pubitemid 44754841)
    • (2007) Molecular Immunology , vol.44 , Issue.1-3 , pp. 111-122
    • Richards, A.1    Kathryn Liszewski, M.2    Kavanagh, D.3    Fang, C.J.4    Moulton, E.5    Fremeaux-Bacchi, V.6    Remuzzi, G.7    Noris, M.8    Goodship, T.H.J.9    Atkinson, J.P.10
  • 48
    • 14644424005 scopus 로고    scopus 로고
    • Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
    • DOI 10.1093/hmg/ddi066
    • Esparza-Gordillo J., Goicoechea de Jorge E., Buil A., Berges L. C., López-Trascasa M., Sánchez-Corral P., Rodríguez de Córdoba S., Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Human Molecular Genetics 2005 14 5 703 712 2-s2.0-14644424005 10.1093/hmg/ddi066 (Pubitemid 40309595)
    • (2005) Human Molecular Genetics , vol.14 , Issue.5 , pp. 703-712
    • Esparza-Gordillo, J.1    Goicoechea De Jorge, E.2    Buil, A.3    Berges, L.C.4    Lopez-Trascasa, M.5    Sanchez-Corral, P.6    Rodriguez De Cordoba, S.7
  • 49
    • 84655168091 scopus 로고    scopus 로고
    • Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS
    • Ermini L., Goodship T. H., Strain L., Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS. Molecular Immunology 2012 49 4 640 648
    • (2012) Molecular Immunology , vol.49 , Issue.4 , pp. 640-648
    • Ermini, L.1    Goodship, T.H.2    Strain, L.3
  • 52
    • 84856863401 scopus 로고    scopus 로고
    • A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome
    • Sartz L., Olin A. I., Kristoffersson A. C., A novel C3 mutation causing increased formation of the C3 convertase in familial atypical hemolytic uremic syndrome. Journal of Immunology 2012 188 4 2030 2037
    • (2012) Journal of Immunology , vol.188 , Issue.4 , pp. 2030-2037
    • Sartz, L.1    Olin, A.I.2    Kristoffersson, A.C.3
  • 55
    • 79960446438 scopus 로고    scopus 로고
    • Complement factor i in health and disease
    • Nilsson S. C., Sim R. B., Lea S. M., Complement factor I in health and disease. Molecular Immunology 2011 48 14 1611 1620
    • (2011) Molecular Immunology , vol.48 , Issue.14 , pp. 1611-1620
    • Nilsson, S.C.1    Sim, R.B.2    Lea, S.M.3
  • 56
    • 80053572803 scopus 로고    scopus 로고
    • Age-related penetrance of hereditary atypical hemolytic uremic syndrome
    • Sullivan M., Rybicki L. A., Winter A., Age-related penetrance of hereditary atypical hemolytic uremic syndrome. Annals of Human Genetics 2011 75 6 639 647
    • (2011) Annals of Human Genetics , vol.75 , Issue.6 , pp. 639-647
    • Sullivan, M.1    Rybicki, L.A.2    Winter, A.3
  • 57
    • 84860141031 scopus 로고    scopus 로고
    • A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome
    • Westra D., Wetzels J. F., Volokhina E. B., A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome. The Netherlands Journal of Medicine 2012 70 3 121 129
    • (2012) The Netherlands Journal of Medicine , vol.70 , Issue.3 , pp. 121-129
    • Westra, D.1    Wetzels, J.F.2    Volokhina, E.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.