메뉴 건너뛰기




Volumn 25, Issue 1, 2010, Pages 97-104

Severe atypical HUS caused by CFH S1191L-case presentation and review of treatment options

Author keywords

Atypical hemolytic uremic syndrome; Eculizumab; Plasma therapy

Indexed keywords

COMPLEMENT FACTOR H; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; FRESH FROZEN PLASMA; IMMUNOGLOBULIN; IRON; NOVEL ERYTHROPOIESIS STIMULATING PROTEIN; PREDNISONE; THROMBOCYTE ANTIBODY;

EID: 76749165686     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1306-7     Document Type: Article
Times cited : (22)

References (50)
  • 1
    • 0001478161 scopus 로고
    • Hemolytic-uremic syndrome: Bilateral necrosis of the renal cortex in acute acquired hemolytic anemia.
    • 1:STN:280:DyaG28%2Fis1SntA%3D%3D 13274004
    • C Gasser E Gautier A Steck RE Siebenmann R Oechslin 1955 Hemolytic-uremic syndrome: bilateral necrosis of the renal cortex in acute acquired hemolytic anemia. Schweiz Med Wochenschr 85 905 909 1:STN:280:DyaG28%2Fis1SntA%3D%3D 13274004
    • (1955) Schweiz Med Wochenschr , vol.85 , pp. 905-909
    • Gasser, C.1    Gautier, E.2    Steck, A.3    Siebenmann, R.E.4    Oechslin, R.5
  • 2
    • 33645562434 scopus 로고    scopus 로고
    • The role of defective complement control in hemolytic uremic syndrome
    • 10.1055/s-2006-939770 1:CAS:528:DC%2BD28Xkt1KrtLY%3D 16575689
    • PF Zipfel J Misselwitz C Licht C Skerka 2006 The role of defective complement control in hemolytic uremic syndrome Semin Thromb Hemost 32 146 154 10.1055/s-2006-939770 1:CAS:528:DC%2BD28Xkt1KrtLY%3D 16575689
    • (2006) Semin Thromb Hemost , vol.32 , pp. 146-154
    • Zipfel, P.F.1    Misselwitz, J.2    Licht, C.3    Skerka, C.4
  • 3
    • 53749084348 scopus 로고    scopus 로고
    • Complement and the atypical hemolytic uremic syndrome in children
    • 10.1007/s00467-008-0872-4
    • C Loirat M Noris V Fremeaux-Bacchi 2008 Complement and the atypical hemolytic uremic syndrome in children Pediatr Nephrol 10.1007/s00467-008-0872-4
    • (2008) Pediatr Nephrol
    • Loirat, C.1    Noris, M.2    Fremeaux-Bacchi, V.3
  • 4
    • 34548358982 scopus 로고    scopus 로고
    • Where next with atypical hemolytic uremic syndrome?
    • DOI 10.1016/j.molimm.2007.06.003, PII S0161589007002672, XIth European meeting on Complement in Human Disease
    • TS Jokiranta PF Zipfel V Fremeaux-Bacchi CM Taylor TJ Goodship M Noris 2007 Where next with atypical hemolytic uremic syndrome? Mol Immunol 44 3889 3900 10.1016/j.molimm.2007.06.003 1:CAS:528:DC%2BD2sXpsl2htrk%3D 17768107 (Pubitemid 47337120)
    • (2007) Molecular Immunology , vol.44 , Issue.16 , pp. 3889-3900
    • Jokiranta, T.S.1    Zipfel, P.F.2    Fremeaux-Bacchi, V.3    Taylor, C.M.4    Goodship, T.J.H.5    Noris, M.6
  • 5
    • 36849084660 scopus 로고    scopus 로고
    • Translational mini-review series on complement factor H: Genetics and disease associations of human complement factor H
    • 18081690
    • SR de Cordoba EG de Jorge 2008 Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H Clin Exp Immunol 151 1 13 18081690
    • (2008) Clin Exp Immunol , vol.151 , pp. 1-13
    • De Cordoba, S.R.1    De Jorge, E.G.2
  • 10
    • 0242570482 scopus 로고    scopus 로고
    • Familial haemolytic uraemic syndrome and an MCP mutation
    • DOI 10.1016/S0140-6736(03)14742-3
    • M Noris S Brioschi J Caprioli M Todeschini E Bresin F Porrati S Gamba G Remuzzi 2003 Familial haemolytic uraemic syndrome and an MCP mutation Lancet 362 1542 1547 10.1016/S0140-6736(03)14742-3 1:CAS:528:DC%2BD3sXovVWlsrs%3D 14615110 (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
  • 14
    • 37849022343 scopus 로고    scopus 로고
    • Translational mini-review series on complement factor H: Renal diseases associated with complement factor H: Novel insights from humans and animals
    • 1:CAS:528:DC%2BD1cXitVWntL0%3D 18190458
    • MC Pickering HT Cook 2008 Translational mini-review series on complement factor H: Renal diseases associated with complement factor H: novel insights from humans and animals Clin Exp Immunol 151 210 230 1:CAS:528: DC%2BD1cXitVWntL0%3D 18190458
    • (2008) Clin Exp Immunol , vol.151 , pp. 210-230
    • Pickering, M.C.1    Cook, H.T.2
  • 15
    • 38949155911 scopus 로고    scopus 로고
    • Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency
    • DOI 10.1182/blood-2007-09-109876
    • M Jozsi C Licht S Strobel SL Zipfel H Richter S Heinen PF Zipfel C Skerka 2008 Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency Blood 111 1512 1514 10.1182/blood-2007-09-109876 1:CAS:528:DC%2BD1cXhvFejurY%3D 18006700 (Pubitemid 351213440)
    • (2008) Blood , vol.111 , Issue.3 , pp. 1512-1514
    • Jozsi, M.1    Licht, C.2    Strobel, S.3    Zipfel, S.L.H.4    Richter, H.5    Heinen, S.6    Zipfel, P.F.7    Skerka, C.8
  • 16
    • 34548853385 scopus 로고    scopus 로고
    • Anti-factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome
    • DOI 10.1182/blood-2007-02-071472
    • M Jozsi S Strobel HM Dahse WS Liu PF Hoyer M Oppermann C Skerka PF Zipfel 2007 Anti factor H autoantibodies block C-terminal recognition function of factor H in hemolytic uremic syndrome Blood 110 1516 1518 10.1182/blood-2007-02- 071472 1:CAS:528:DC%2BD2sXhtVSgsb3P 17495132 (Pubitemid 47443967)
    • (2007) Blood , vol.110 , Issue.5 , pp. 1516-1518
    • Jozsi, M.1    Strobel, S.2    Dahse, H.-M.3    Liu, W.-S.4    Hoyer, P.F.5    Oppermann, M.6    Skerka, C.7    Zipfel, P.F.8
  • 19
    • 33846443153 scopus 로고    scopus 로고
    • Renal transplantation in HUS patients with disorders of complement regulation
    • DOI 10.1007/s00467-006-0210-7
    • LB Zimmerhackl J Scheiring F Prufer CM Taylor C Loirat 2007 Renal transplantation in HUS patients with disorders of complement regulation Pediatr Nephrol 22 10 16 10.1007/s00467-006-0210-7 17058051 (Pubitemid 46138353)
    • (2007) Pediatric Nephrology , vol.22 , Issue.1 , pp. 10-16
    • Zimmerhackl, L.B.1    Scheiring, J.2    Prufer, F.3    Taylor, C.M.4    Loirat, C.5
  • 20
    • 49349112382 scopus 로고    scopus 로고
    • Hemolytic uremic syndrome recurrence after renal transplantation
    • 10.1111/j.1399-3046.2008.00910.x 1:CAS:528:DC%2BD1cXhtFSltbvM 18482212
    • C Loirat V Fremeaux-Bacchi 2008 Hemolytic uremic syndrome recurrence after renal transplantation Pediatr Transplant 12 619 629 10.1111/j.1399-3046. 2008.00910.x 1:CAS:528:DC%2BD1cXhtFSltbvM 18482212
    • (2008) Pediatr Transplant , vol.12 , pp. 619-629
    • Loirat, C.1    Fremeaux-Bacchi, V.2
  • 21
    • 67650508077 scopus 로고    scopus 로고
    • The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome
    • 10.1136/jmg.2008.064766 1:CAS:528:DC%2BD1MXpslOqu7c%3D 19435718
    • MA Dragon-Durey C Blanc F Marliot C Loirat J Blouin C Sautes-Fridman WH Fridman V Fremeaux-Bacchi 2009 The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome J Med Genet 46 447 450 10.1136/jmg.2008. 064766 1:CAS:528:DC%2BD1MXpslOqu7c%3D 19435718
    • (2009) J Med Genet , vol.46 , pp. 447-450
    • Dragon-Durey, M.A.1    Blanc, C.2    Marliot, F.3    Loirat, C.4    Blouin, J.5    Sautes-Fridman, C.6    Fridman, W.H.7    Fremeaux-Bacchi, V.8
  • 22
    • 33846668749 scopus 로고    scopus 로고
    • Hemolytic uremic syndrome: A factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells
    • DOI 10.1681/ASN.2006091069
    • S Heinen M Jozsi A Hartmann M Noris G Remuzzi C Skerka PF Zipfel 2007 Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells J Am Soc Nephrol 18 506 514 10.1681/ASN.2006091069 1:CAS:528:DC%2BD2sXit12ju78%3D 17229916 (Pubitemid 46193316)
    • (2007) Journal of the American Society of Nephrology , vol.18 , Issue.2 , pp. 506-514
    • Heinen, S.1    Jozsi, M.2    Hartmann, A.3    Noris, M.4    Remuzzi, G.5    Skerka, C.6    Zipfel, P.F.7
  • 25
    • 11144290605 scopus 로고    scopus 로고
    • Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: Successful treatment with intensive plasma exchanges and ganciclovir
    • DOI 10.1053/j.ajkd.2004.09.012, PII S0272638604013071
    • KH Olie TH Goodship R Verlaak S Florquin JW Groothoff L Strain JJ Weening JC Davin 2005 Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir Am J Kidney Dis 45 e12 e15 10.1053/j.ajkd.2004.09.012 15696434 (Pubitemid 40038036)
    • (2005) American Journal of Kidney Diseases , vol.45 , Issue.1
    • Olie, K.H.1    Goodship, T.H.J.2    Verlaak, R.3    Florquin, S.4    Groothoff, J.W.5    Strain, L.6    Weening, J.J.7    Davin, J.-C.8
  • 26
    • 47749148096 scopus 로고    scopus 로고
    • Plasma therapy in atypical haemolytic uremic syndrome: Lessons from a family with a factor H mutation
    • 10.1007/s00467-008-0833-y 18483746
    • JC Davin L Strain TH Goodship 2008 Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation Pediatr Nephrol 23 1517 1521 10.1007/s00467-008-0833-y 18483746
    • (2008) Pediatr Nephrol , vol.23 , pp. 1517-1521
    • Davin, J.C.1    Strain, L.2    Goodship, T.H.3
  • 29
    • 65649106258 scopus 로고    scopus 로고
    • Liver-kidney transplantation to cure atypical hemolytic uremic syndrome
    • 10.1681/ASN.2008080906 1:CAS:528:DC%2BD1MXlvFKqsbg%3D 19092117
    • JM Saland P Ruggenenti G Remuzzi 2009 Liver-kidney transplantation to cure atypical hemolytic uremic syndrome J Am Soc Nephrol 20 940 949 10.1681/ASN.2008080906 1:CAS:528:DC%2BD1MXlvFKqsbg%3D 19092117
    • (2009) J Am Soc Nephrol , vol.20 , pp. 940-949
    • Saland, J.M.1    Ruggenenti, P.2    Remuzzi, G.3
  • 30
    • 34047221441 scopus 로고    scopus 로고
    • Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria
    • DOI 10.1111/j.1365-2141.2007.06554.x
    • A Hill SJ Richards P Hillmen 2007 Recent developments in the understanding and management of paroxysmal nocturnal haemoglobinuria Br J Haematol 137 181 192 10.1111/j.1365-2141.2007.06554.x 1:CAS:528: DC%2BD2sXmtVGrsb0%3D 17408457 (Pubitemid 46537635)
    • (2007) British Journal of Haematology , vol.137 , Issue.3 , pp. 181-192
    • Hill, A.1    Richards, S.J.2    Hillmen, P.3
  • 33
    • 59449088846 scopus 로고    scopus 로고
    • Eculizumab for congenital atypical hemolytic-uremic syndrome
    • 10.1056/NEJMc0809959 1:CAS:528:DC%2BD1MXht1aiurw%3D 19179329
    • RA Gruppo RP Rother 2009 Eculizumab for congenital atypical hemolytic-uremic syndrome N Engl J Med 360 544 546 10.1056/NEJMc0809959 1:CAS:528:DC%2BD1MXht1aiurw%3D 19179329
    • (2009) N Engl J Med , vol.360 , pp. 544-546
    • Gruppo, R.A.1    Rother, R.P.2
  • 35
    • 0037062233 scopus 로고    scopus 로고
    • Combined kidney and liver transplantation for familial haemolytic uraemic syndrome
    • DOI 10.1016/S0140-6736(02)08560-4
    • G Remuzzi P Ruggenenti D Codazzi M Noris J Caprioli G Locatelli B Gridelli 2002 Combined kidney and liver transplantation for familial haemolytic uraemic syndrome Lancet 359 1671 1672 10.1016/S0140-6736(02)08560-4 12020532 (Pubitemid 34518531)
    • (2002) Lancet , vol.359 , Issue.9318 , pp. 1671-1672
    • Remuzzi, G.1    Ruggenenti, P.2    Codazzi, D.3    Noris, M.4    Caprioli, J.5    Locatelli, G.6    Gridelli, B.7
  • 36
    • 1842637606 scopus 로고    scopus 로고
    • Attempted treatment of factor H deficiency by liver transplantation
    • DOI 10.1007/s00467-003-1371-2
    • HI Cheong BS Lee HG Kang H Hahn KS Suh IS Ha Y Choi 2004 Attempted treatment of factor H deficiency by liver transplantation Pediatr Nephrol 19 454 458 10.1007/s00467-003-1371-2 14986080 (Pubitemid 38477414)
    • (2004) Pediatric Nephrology , vol.19 , Issue.4 , pp. 454-458
    • Cheong, H.I.1    Lee, B.S.2    Kang, H.-G.3    Hahn, H.4    Suh, K.-S.5    Ha, I.S.6    Choi, Y.7
  • 37
    • 1542318912 scopus 로고    scopus 로고
    • Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: Report and genetic analysis of 16 cases
    • DOI 10.1097/01.ASN.0000115702.28859.A7
    • MA Dragon-Durey V Fremeaux-Bacchi C Loirat J Blouin P Niaudet G Deschenes P Coppo W Herman Fridman L Weiss 2004 Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases J Am Soc Nephrol 15 787 795 10.1097/01.ASN.0000115702.28859.A7 1:CAS:528:DC%2BD2cXhtlShu7w%3D 14978182 (Pubitemid 38294810)
    • (2004) Journal of the American Society of Nephrology , vol.15 , Issue.3 , pp. 787-795
    • Dragon-Durey, M.-A.1    Fremeaux-Bacchi, V.2    Loirat, C.3    Blouin, J.4    Niaudet, P.5    Deschenes, G.6    Coppo, P.7    Fridman, W.H.8    Weiss, L.9
  • 38
    • 4344718851 scopus 로고    scopus 로고
    • Challenges in the management of infantile factor H associated hemolytic uremic syndrome
    • 15206027
    • G Filler S Radhakrishnan L Strain A Hill G Knoll TH Goodship 2004 Challenges in the management of infantile factor H associated hemolytic uremic syndrome Pediatr Nephrol 19 908 911 15206027
    • (2004) Pediatr Nephrol , vol.19 , pp. 908-911
    • Filler, G.1    Radhakrishnan, S.2    Strain, L.3    Hill, A.4    Knoll, G.5    Goodship, T.H.6
  • 40
    • 20144373025 scopus 로고    scopus 로고
    • Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15
    • DOI 10.1053/j.ajkd.2004.10.018
    • C Licht A Weyersberg S Heinen L Stapenhorst J Devenge B Beck R Waldherr M Kirschfink PF Zipfel B Hoppe 2005 Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15 Am J Kidney Dis 45 415 421 10.1053/j.ajkd.2004.10.018 1:CAS:528:DC%2BD2MXit1yitLk%3D 15685522 (Pubitemid 40431070)
    • (2005) American Journal of Kidney Diseases , vol.45 , Issue.2 , pp. 415-421
    • Licht, C.1    Weyersberg, A.2    Heinen, S.3    Stapenhorst, L.4    Devenge, J.5    Beck, B.6    Waldherr, R.7    Kirschfink, M.8    Zipfel, P.F.9    Hoppe, B.10
  • 41
    • 0034957282 scopus 로고    scopus 로고
    • Successful plasma therapy in hemolytic uremic syndrome with factor H deficiency
    • DOI 10.1007/s004670100609
    • S Nathanson V Fremeaux-Bacchi G Deschenes 2001 Successful plasma therapy in hemolytic uremic syndrome with factor H deficiency Pediatr Nephrol 16 554 556 10.1007/s004670100609 1:STN:280:DC%2BD38%2FitFyhtQ%3D%3D 11465803 (Pubitemid 32600159)
    • (2001) Pediatric Nephrology , vol.16 , Issue.7 , pp. 554-556
    • Nathanson, S.1    Fremeaux-Bacchi, V.2    Deschenes, G.3
  • 42
    • 33748696777 scopus 로고    scopus 로고
    • Secondary failure of plasma therapy in factor H deficiency
    • DOI 10.1007/s00467-006-0237-9
    • S Nathanson T Ulinski V Fremeaux-Bacchi G Deschenes 2006 Secondary failure of plasma therapy in factor H deficiency Pediatr Nephrol 21 1769 1771 10.1007/s00467-006-0237-9 16909242 (Pubitemid 44390844)
    • (2006) Pediatric Nephrology , vol.21 , Issue.11 , pp. 1769-1771
    • Nathanson, S.1    Ulinski, T.2    Fremeaux-Bacchi, V.3    Deschenes, G.4
  • 44
    • 33745767079 scopus 로고    scopus 로고
    • Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation
    • DOI 10.1111/j.1600-6143.2006.01375.x
    • JM Saland SH Emre BL Shneider C Benchimol S Ames JS Bromberg G Remuzzi L Strain TH Goodship 2006 Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation Am J Transplant 6 1948 1952 10.1111/j.1600-6143.2006.01375.x 1:STN:280:DC%2BD28vms1ahsg%3D%3D 16889549 (Pubitemid 44024968)
    • (2006) American Journal of Transplantation , vol.6 , Issue.8 , pp. 1948-1952
    • Saland, J.M.1    Emre, S.H.2    Shneider, B.L.3    Benchimol, C.4    Ames, S.5    Bromberg, J.S.6    Remuzzi, G.7    Strain, L.8    Goodship, T.H.J.9
  • 45
    • 34247381485 scopus 로고    scopus 로고
    • Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate
    • DOI 10.1007/s00467-007-0438-x
    • HY Cho BS Lee KC Moon IS Ha HI Cheong Y Choi 2007 Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate Pediatr Nephrol 22 874 880 10.1007/s00467-007-0438-x 17295030 (Pubitemid 46629624)
    • (2007) Pediatric Nephrology , vol.22 , Issue.6 , pp. 874-880
    • Cho, H.Y.1    Lee, B.S.2    Moon, K.C.3    Ha, I.S.4    Cheong, H.I.5    Choi, Y.6
  • 46
    • 30944470351 scopus 로고    scopus 로고
    • Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: Concordant presentation, discordant response to treatment
    • DOI 10.1053/j.ajkd.2005.11.007, PII S0272638605016896
    • JC Davin KH Olie R Verlaak F Horuz S Florquin JJ Weening JW Groothoff L Strain TH Goodship 2006 Complement factor H-associated atypical hemolytic uremic syndrome in monozygotic twins: concordant presentation, discordant response to treatment Am J Kidney Dis 47 e27 e30 10.1053/j.ajkd.2005.11.007 16431247 (Pubitemid 43121349)
    • (2006) American Journal of Kidney Diseases , vol.47 , Issue.2
    • Davin, J.-C.1    Olie, K.H.2    Verlaak, R.3    Horuz, F.4    Florquin, S.5    Weening, J.J.6    Groothoff, J.W.7    Strain, L.8    Goodship, T.H.J.9
  • 49
    • 70349673464 scopus 로고    scopus 로고
    • Hemolytic uremic syndrome due to homozygous factor H deficiency
    • 10.1007/s10157-009-0205-3 19568827
    • SK Sethi DD Marie-Agnes N Thaker P Hari A Bagga 2009 Hemolytic uremic syndrome due to homozygous factor H deficiency Clin Exp Nephrol 10.1007/s10157-009-0205-3 19568827
    • (2009) Clin Exp Nephrol
    • Sethi, S.K.1    Marie-Agnes, D.D.2    Thaker, N.3    Hari, P.4    Bagga, A.5
  • 50
    • 66149093078 scopus 로고    scopus 로고
    • Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin
    • 10.1002/pbc.21951 19301397
    • T Watt B Warshaw HM Katzenstein 2009 Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin Pediatr Blood Cancer 53 90 91 10.1002/pbc.21951 19301397
    • (2009) Pediatr Blood Cancer , vol.53 , pp. 90-91
    • Watt, T.1    Warshaw, B.2    Katzenstein, H.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.