Complement Factor H-Antibody-Associated Hemolytic Uremic Syndrome: Pathogenesis, Clinical Presentation, and Treatment

被引:33
作者
Hofer, Johannes [1 ]
Giner, Thomas [1 ]
Jozsi, Mihaly [2 ]
机构
[1] Med Univ Innsbruck, Dept Pediat 1, A-6020 Innsbruck, Austria
[2] Eotvos Lorand Univ, Dept Immunol, MTA ELTE Lendulet Complement Res Grp, Budapest, Hungary
关键词
complement factor H; complement factor H antibodies; atypical hemolytic uremic syndrome; complement-related diseases; transplantation; COFACTOR PROTEIN CD46; FACTOR-I; ATYPICAL HUS; MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS; CFHR1/CFHR3; DEFICIENCY; RENAL-TRANSPLANTATION; MACULAR DEGENERATION; FUNCTIONAL ANALYSES; DEAP-HUS; AUTOANTIBODIES;
D O I
10.1055/s-0034-1375297
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The presence of circulating autoantibodies, primarily to complement factor H antibodies (CFH-Abs) in plasma characterizes the autoimmune form of atypical hemolytic uremic syndrome (aHUS). This acquired form of aHUS defines a distinct subgroup of aHUS patients, which requires diagnostic and treatment approaches in part different from those of the genetically defined forms. The mechanisms leading to CFH-Ab production and disease onset are not completely understood, but CFH-Ab HUS seems to be secondary to a combination of genetic predisposition and environmental factors. Early diagnosis of this specific aHUS entity is important, as prompt induction of plasma exchange and concomitant immunosuppression leads to a favorable outcome. Nevertheless, information on clinical features and outcome in children is limited. Here, we review the literature on the biological and clinical features of CFH-Ab HUS and discuss therapeutic options.
引用
收藏
页码:431 / 443
页数:13
相关论文
共 71 条
[1]   Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome [J].
Abarrategui-Garrido, Cynthia ;
Martinez-Barricarte, Ruben ;
Lopez-Trascasa, Margarita ;
Rodriguez de Cordoba, Santiago ;
Sanchez-Corral, Pilar .
BLOOD, 2009, 114 (19) :4261-4271
[2]   Skin Involvement in Atypical Hemolytic Uremic Syndrome [J].
Ardissino, Gianluigi ;
Tel, Francesca ;
Testa, Sara ;
Marzano, Angelo Valerio ;
Lazzari, Riccardo ;
Salardi, Stefania ;
Edefonti, Alberto .
AMERICAN JOURNAL OF KIDNEY DISEASES, 2014, 63 (04) :652-655
[3]   Overall Neutralization of Complement Factor H by Autoantibodies in the Acute Phase of the Autoimmune Form of Atypical Hemolytic Uremic Syndrome [J].
Blanc, Caroline ;
Roumenina, Lubka T. ;
Ashraf, Yahya ;
Hyvaerinen, Satu ;
Sethi, Sidharth Kumar ;
Ranchin, Bruno ;
Niaudet, Patrick ;
Loirat, Chantal ;
Gulati, Ashima ;
Bagga, Arvind ;
Fridman, Wolf Herman ;
Sautes-Fridman, Catherine ;
Jokiranta, T. Sakari ;
Fremeaux-Bacchi, Veronique ;
Dragon-Durey, Marie-Agnes .
JOURNAL OF IMMUNOLOGY, 2012, 189 (07) :3528-3537
[4]   Pulse Cyclophosphamide Therapy and Clinical Remission in Atypical Hemolytic Uremic Syndrome With Anti-Complement Factor H Autoantibodies [J].
Boyer, Olivia ;
Balzamo, Eve ;
Charbit, Marina ;
Biebuyck-Gouge, Nathalie ;
Salomon, Remi ;
Dragon-Durey, Marie-Agnes ;
Fremeaux-Bacchi, Veronique ;
Niaudet, Patrick .
AMERICAN JOURNAL OF KIDNEY DISEASES, 2010, 55 (05) :923-927
[5]   An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document [J].
Campistol, Josep M. ;
Arias, Manuel ;
Ariceta, Gema ;
Blasco, Miguel ;
Espinosa, Mario ;
Grinyo, Josep M. ;
Praga, Manuel ;
Torra, Roser ;
Vilalta, Ramon ;
Rodriguez de Cordoba, Santiago .
NEFROLOGIA, 2013, 33 (01) :27-45
[6]   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 [J].
Caprioli, J ;
Castelletti, F ;
Bucchioni, S ;
Bettinaglio, P ;
Bresin, E ;
Pianetti, G ;
Gamba, S ;
Brioschi, S ;
Daina, E ;
Remuzzi, G ;
Noris, M .
HUMAN MOLECULAR GENETICS, 2003, 12 (24) :3385-3395
[7]  
Caprioli J, 2001, J AM SOC NEPHROL, V12, P297, DOI 10.1681/ASN.V122297
[8]   Non-enteropathic hemolytic uremic syndrome: Causes and short-term course [J].
Constantinescu, AR ;
Bitzan, M ;
Weiss, LS ;
Christen, E ;
Kaplan, BS ;
Cnaan, A ;
Trachtman, H .
AMERICAN JOURNAL OF KIDNEY DISEASES, 2004, 43 (06) :976-982
[9]   Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome [J].
de Jorge, Elena Goicoechea ;
Harris, Claire L. ;
Esparza-Gordillo, Jorge ;
Carreras, Luis ;
Arranz, Elena Aller ;
Garrido, Cynthia Abarrategui ;
Lopez-Trascasa, Margarita ;
Sanchez-Corral, Pilar ;
Morgan, B. Paul ;
Rodriguez de Cordoba, Santiago .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (01) :240-245
[10]   The Development of Atypical Hemolytic Uremic Syndrome Depends on Complement C5 [J].
de Jorge, Elena Goicoechea ;
Macor, Paolo ;
Paixao-Cavalcante, Danielle ;
Rose, Kirsten L. ;
Tedesco, Franco ;
Cook, H. Terence ;
Botto, Marina ;
Pickering, Matthew C. .
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2011, 22 (01) :137-145