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Agnes Hackl, Rasmus Ehren, Michael Kirschfink, Peter F Zipfel, Bodo B Beck, Lutz T Weber, Sandra Habbig
BACKGROUND: Deficiency of complement factor H-related plasma proteins and complement factor H autoantibody-positive hemolytic uremic syndrome (DEAP-HUS), which is characterized by the deficiency of complement-factor H-related (CFHR) plasma proteins and the subsequent formation of autoantibodies against complement factor H (CFH), has been reported to have an adverse outcome in one third of patients. Therapy options include prompt removal of antibodies by plasma exchange and immunosuppressive therapy...
June 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Damien Noone, Aoife Waters, Fred G Pluthero, Denis F Geary, Michael Kirschfink, Peter F Zipfel, Christoph Licht
BACKGROUND: Deficiency of complement factor H-related (CFHR) proteins and CFH autoantibody-positive hemolytic uremic syndrome (DEAP-HUS) represents a unique subgroup of complement-mediated atypical HUS (aHUS). Autoantibodies to the C-terminus of CFH block CFH surface recognition and mimic mutations found in the genetic form of (CFH-mediated) aHUS. CFH autoantibodies are found in 10-15 % of aHUS patients and occur--so far unexplained--almost exclusively in the background of CFHR1 or CFHR3/CFHR1 deletions...
May 2014: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Jon Jin Kim, Mignon McCulloch, Stephen D Marks, Aoife Waters, Damien Noone
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is associated with significant mortality, progression to end-stage renal disease and recurrence post transplantation. The deficiency of CFHR plasma proteins and autoantibody-positive hemolytic uremic syndrome (DEAP-HUS) has a more favorable outcome. Guidelines suggest plasma therapy be initiated within 24 hours of presentation of aHUS. Presentation of aHUS, particularly, DEAP-HUS is associated with a diarrheal prodrome in up to 53% of patients and initiation of appropriate therapies is frequently delayed...
January 2015: Clinical Nephrology
Arife Uslu-Gökceoğlu, Cagla Serpil Doğan, Elif Comak, Mustafa Koyun, Sema Akman
Atypical hemolytic uremic syndrome (aHUS) is a disease caused by pathologies in the alternative complement system. The prevalence of aHUS is 10% of all aHUS cases. The subgroup of aHUS designated as DEAP (DEficiency of CFHR Proteins and CFH Autoantibody Positive)-HUS because of autoantibody to complement factor H (CFH) and CFH-related protein deficiency is seen very rarely, and the prevalence is 6% of all aHUS cases in the literature. We present here a female patient with DEAP-HUS. A 7.5-year-old girl with recurrent attacks of HUS had low C3 level...
January 2013: Turkish Journal of Pediatrics
D Noone, J Al-Matrafi, K Tinckam, P F Zipfel, A M Herzenberg, P S Thorner, F G Pluthero, W H A Kahr, G Filler, D Hebert, E Harvey, C Licht
Antibody mediated rejection (AMR) activates the classical complement pathway and can be detrimental to graft survival. AMR can be accompanied by thrombotic microangiopathy (TMA). Eculizumab, a monoclonal C5 antibody prevents induction of the terminal complement cascade (TCC) and has recently emerged as a therapeutic option for AMR. We present a highly sensitized 13-year-old female with end-stage kidney disease secondary to spina bifida-associated reflux nephropathy, who developed severe steroid-, ATG- and plasmapheresis-resistant AMR with TMA 1 week post second kidney transplant despite previous desensitization therapy with immunoglobulin infusions...
September 2012: American Journal of Transplantation
Christine Skerka, Peter F Zipfel, Dominik Müller, Sven Micklisch, Magdalena Riedl, Lothar-Bernd Zimmerhackl, Johannes Hofer
DEAP-HUS (deficiency of CFHR plasma proteins and factor H [FH] autoantibody positive hemolytic uremic syndrome [HUS]) is a new form of HUS characterized by a deletion of genes coding for FH-related proteins and the presence of autoantibodies directed to FH. These disease-associated autoantibodies inhibit FH (CFH) surface binding functions, which results in a defective regulation of the alternative pathway and damage of endothelial cells. Here we describe two representative patients with DEAP-HUS who both developed end-stage renal failure with the background of homozygous deletion of CFHR1 and CFHR3 genes and the presence of FH autoantibodies...
September 2010: Seminars in Thrombosis and Hemostasis
Peter F Zipfel, Stefan Heinen, Christine Skerka
PURPOSE OF REVIEW: Thrombotic microangiopathies (TMAs) manifest as a spectrum of related disorders in the form of thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). New data on both diseases support more and more the relatedness of the disorders and reveal related pathomechanisms, which, however, manifest in different organs. TTP develops primarily at neurological sites, and also in the kidney, and HUS is a kidney disease. In TTP thrombi formation occurs subsequently to the release of multimers of von Willebrand factor (vWF), and in HUS endothelial cell damage is considered the reason for complement and platelet activation leading to thrombus formation...
July 2010: Current Opinion in Nephrology and Hypertension
Peter F Zipfel, Christoph Mache, Dominik Müller, Christoph Licht, Marianne Wigger, Christine Skerka
DEAP-HUS [Deficiency of CFHR (complement factor H-related) plasma proteins and Autoantibody Positive form of Hemolytic Uremic Syndrome] represents a novel subtype of hemolytic uremic syndrome (HUS) with unique characteristics. It affects children and requires special clinical attention in terms of diagnosis and therapy. DEAP-HUS and other atypical forms of HUS share common features, such as microangiopathic hemolytic anemia, acute renal failure, and thrombocytopenia. However, DEAP-HUS has the unique combination of an acquired factor in the form of autoantibodies to the complement inhibitor Factor H and a genetic factor which, in most cases, is the chromosomal deletion of a 84-kbp fragment within human chromosome 1 that results in the absence of the CFHR1 and CFHR3 proteins in plasma...
October 2010: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Christine Skerka, Christoph Licht, Michael Mengel, Barbara Uzonyi, Stefanie Strobel, Peter F Zipfel, Mihály Józsi
There is increasing evidence that Thrombotic Thrombocytopenic Purpura (TTP), atypical Hemolytic Uremic Syndrome (aHUS) and Membranoproliferative Glomerulonephritis (MPGN), especially subtype II (also termed Dense Deposit Disease) represent a spectrum of related disorders. Thrombi are common for all three disorders, develop in different microvascular beds and appear relevant for organ dysfunction. TTP not only develops primarily at neurological sites, but also in the kidney and aHUS develops primarily in the kidneys...
September 2009: Molecular Immunology
Christine Skerka, Mihály Józsi, Peter F Zipfel, Marie-Agnes Dragon-Durey, Veronique Fremeaux-Bacchi
Haemolytic uraemic syndrome (HUS) is a severe disease with renal failure, microangiopathic anemia and thrombocytopenia. Several mechanisms leading to HUS have been identified, like infections with enterohaemorrhagic Escherichia coli, as well as genetic mutations of complement genes, which result in defective complement control on the surface of host cells. The complement system forms the first defense line of innate immunity and mediates the attack against foreign microorganisms. Defective regulation of this cascade results in attack of self cells and in autoimmune disease...
February 2009: Thrombosis and Haemostasis
Mihály Józsi, Christoph Licht, Stefanie Strobel, Svante L H Zipfel, Heiko Richter, Stefan Heinen, Peter F Zipfel, Christine Skerka
Atypical hemolytic uremic syndrome (aHUS) is a severe renal disease that is associated with defective complement regulation caused by multiple factors. We previously described the deficiency of factor H-related proteins CFHR1 and CFHR3 as predisposing factor for aHUS. Here we identify in an extended cohort of 147 aHUS patients that 16 juvenile individuals (ie, 11%) who either lacked the CFHR1/CFHR3 completely (n = 14) or showed extremely low CFHR1/CFHR3 plasma levels (n = 2) are positive for factor H (CFH) autoantibodies...
February 1, 2008: Blood
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