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41 papers 25 to 100 followers Hemolytic uremic syndrome
By P O Pediatrics, Nephrology
Richard J H Smith, Gerald B Appel, Anna M Blom, H Terence Cook, Vivette D D'Agati, Fadi Fakhouri, Véronique Fremeaux-Bacchi, Mihály Józsi, David Kavanagh, John D Lambris, Marina Noris, Matthew C Pickering, Giuseppe Remuzzi, Santiago Rodriguez de Córdoba, Sanjeev Sethi, Johan Van der Vlag, Peter F Zipfel, Carla M Nester
The C3 glomerulopathies are a group of rare kidney diseases characterized by complement dysregulation occurring in the fluid phase and in the glomerular microenvironment, which results in prominent complement C3 deposition in kidney biopsy samples. The two major subgroups of C3 glomerulopathy - dense deposit disease (DDD) and C3 glomerulonephritis (C3GN) - have overlapping clinical and pathological features suggestive of a disease continuum. Dysregulation of the complement alternative pathway is fundamental to the manifestations of C3 glomerulopathy, although terminal pathway dysregulation is also common...
January 28, 2019: Nature Reviews. Nephrology
Marcell Cserhalmi, Barbara Uzonyi, Nicolas S Merle, Dorottya Csuka, Edgar Meusburger, Karl Lhotta, Zoltán Prohászka, Mihály Józsi
Dysregulation of the complement alternative pathway is involved in the pathogenesis of several diseases, including the kidney diseases atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). In a patient, initially diagnosed with chronic glomerulonephritis, possibly C3G, and who 6 years later had an episode of aHUS, a heterozygous missense mutation leading to a tryptophan to arginine exchange (W198R) in the factor H (FH) complement control protein (CCP) 3 domain has previously been identified...
2017: Frontiers in Immunology
Andrea Angioi, Fernando C Fervenza, Sanjeev Sethi, Yuzhou Zhang, Richard J Smith, David Murray, Jens Van Praet, Antonello Pani, An S De Vriese
Kidney diseases resulting from abnormal control of the complement alternative pathway include atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease, as well as atypical postinfectious glomerulonephritis. Although clinically diverse, they all result from loss of surface or fluid-phase complement control, caused by acquired or genetic defects in the complement alternative pathway. As such, the diagnostic approach is similar and includes a comprehensive biochemical, genetic, and pathologic analysis of the complement pathway...
February 2016: Kidney International
Hidemi Toyoda, Hideo Wada, Toshiyuki Miyata, Keishiro Amano, Kentaro Kihira, Shotaro Iwamoto, Masahiro Hirayama, Yoshihiro Komada
Eculizumab, terminal complement inhibitor, has become the frontline treatment for atypical hemolytic uremic syndrome (aHUS). However, the optimal treatment schedule has not yet been established. We describe here an aHUS patient with a mutation of C3 I1157T who achieved remission with eculizumab and suffered a recurrence after eculizumab discontinuation, a clinical situation that has not been previously described in patients with C3 mutation. A 9-year-old male experienced an onset of aHUS after viral gastroenteritis and was treated with hemodialysis...
April 2016: Journal of Pediatric Hematology/oncology
Aadil Kakajiwala, Tricia Bhatti, Bernard S Kaplan, Rebecca L Ruebner, Lawrence Copelovitch
A 7-year-old male with poststreptococcal glomerulonephritis (PSGN) developed hemolytic uremic syndrome (HUS) and achieved remission. He was treated with eculizumab for 1 year. The eculizumab was discontinued and the patient remained in remission. This is the 10th reported case of PSGN associated with HUS. The histopathological feature observed at the 1-year follow-up was indistinguishable from the expected findings in an individual with healed PSGN without associated HUS. The relatively good prognosis in most prior cases and the absence of any reported recurrences strongly suggest that this form of atypical HUS does not warrant long-term eculizumab therapy...
February 2016: Clinical Kidney Journal
Sandra Habbig, Carsten Bergmann, Lutz T Weber
No abstract text is available yet for this article.
March 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Christoph Licht, Gianluigi Ardissino, Gema Ariceta, David Cohen, J Alexander Cole, Christoph Gasteyger, Larry A Greenbaum, Sally Johnson, Masayo Ogawa, Franz Schaefer, Johan Vande Walle, Véronique Frémeaux-Bacchi
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare, genetically-mediated systemic disease most often caused by chronic, uncontrolled complement activation that leads to systemic thrombotic microangiopathy (TMA) and renal and other end-organ damage. METHODS: The global aHUS Registry, initiated in April 2012, is an observational, noninterventional, multicenter registry designed to collect demographic characteristics, medical and disease history, treatment effectiveness and safety outcomes data for aHUS patients...
December 10, 2015: BMC Nephrology
Daniela Lopes, Ana Marta Gomes, Cátia Cunha, Catarina Silva Pinto, Teresa Fidalgo, João Carlos Fernandes
Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS...
December 2015: Clinical Kidney Journal
Matthias Wuttke, Maximilian Seidl, Angelica Malinoc, Friedrich C Prischl, E Wolfgang Kuehn, Gerd Walz, Anna Köttgen
COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt haematuria or hearing loss. A renal biopsy revealed features of atypical IgA nephropathy, while a second biopsy a year later showed features of focal segmental glomerulosclerosis, but was finally diagnosed as chronic thrombotic microangiopathy...
December 2015: Clinical Kidney Journal
Christie P Thomas, Carla M Nester, Andrew C Phan, Manisha Sharma, Amanda L Steele, Petar S Lenert
A 46-year-old female with interstitial lung disease presented with proximal muscle weakness, worsening hypertension, microangiopathic hemolysis, thrombocytopenia and deteriorating renal function. She had no sclerodactyly, but had abnormal capillaroscopy. She tested positive for PM-Scl antibodies, and a renal biopsy showed an acute thrombotic microangiopathy consistent with scleroderma renal crisis (SRC). She failed to respond to corticosteroids, plasmapheresis and renin-angiotensin pathway inhibitors. She recovered quickly with the anti-C5 antibody, eculizumab...
December 2015: Clinical Kidney Journal
Maria D Sanchez-Niño, Alberto Ortiz
In this issue of CKJ, four reports address different aspects of a rare condition, thrombotic microangiopathy, including atypical haemolytic uraemic syndrome. For rare diseases, a single case report may provide hypothesis-generating information that may lead to concept-changing research with the potential to influence patient care. The present reports and small series illustrate the following aspects of thrombotic microangiopathy: (i) the role of whole-exome sequencing and of repeating the family history assessment over time in reducing the number of chronic kidney disease patients with non-specific diagnosis (e...
December 2015: Clinical Kidney Journal
Nicola Semeraro, Concetta T Ammollo, Fabrizio Semeraro, Mario Colucci
Coagulopathy is common in acute sepsis and may range from subclinical activation of blood coagulation (hypercoagulability), which may contribute to venous thromboembolism, to acute disseminated intravascular coagulation, characterized by widespread microvascular thrombosis and consumption of platelets and coagulation proteins, eventually causing bleeding. The key event underlying this life-threatening complication is the overwhelming inflammatory host response to the pathogen leading to the overexpression of inflammatory mediators...
September 2015: Seminars in Thrombosis and Hemostasis
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
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
Josep M Campistol, Manuel Arias, Gema Ariceta, Miguel Blasco, Laura Espinosa, Mario Espinosa, Josep M Grinyó, Manuel Macía, Santiago Mendizábal, Manuel Praga, Elena Román, Roser Torra, Francisco Valdés, Ramón Vilalta, Santiago Rodríguez de Córdoba
Haemolytic uraemic syndrome (HUS) is a clinical entity defined as the triad of nonimmune haemolytic anaemia, thrombocytopenia, and acute renal failure, in which the underlying lesions are mediated by systemic thrombotic microangiopathy (TMA). Different causes can induce the TMA process that characterizes HUS. In this document we consider atypical HUS (aHUS) a sub-type of HUS in which the TMA phenomena are the consequence of the endotelial damage in the microvasculature of the kidneys and other organs due to a disregulation of the activity of the complement system...
2015: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
Lucio Manenti, Elisa Gnappi, Augusto Vaglio, Landino Allegri, Marina Noris, Elena Bresin, Francesco Paolo Pilato, Elisabetta Valoti, Sonia Pasquali, Carlo Buzio
BACKGROUND: Primary or secondary glomerulonephritis has been anecdotally reported in association with atypical haemolytic uraemic syndrome (aHUS). We here report a series of six patients who developed aHUS and glomerulopathy, and review the literature on aHUS and glomerulonephritis. METHODS: Out of all patients diagnosed at our unit with biopsy-proven glomerular diseases between March 2007 and October 2011, selected cases developing aHUS during the follow-up are presented...
September 2013: Nephrology, Dialysis, Transplantation
Carmine Pecoraro, Alfonso Vincenzo Salvatore Ferretti, Erica Rurali, Miriam Galbusera, Marina Noris, Giuseppe Remuzzi
A 12-year-old boy was hospitalized for hemolytic anemia, thrombocytopenia, acute kidney injury, and generalized seizures. The childhood onset, severely decreased kidney function, absence of prodromal diarrhea, negative test results for Shiga-like toxin-producing Escherichia coli, elevated plasma levels of the terminal complement complex sC5b-9, and ex vivo testing in endothelial cells showing serum-induced complement activation were all consistent with a diagnosis of complement-mediated atypical hemolytic uremic syndrome...
December 2015: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Spero R Cataland, Haifeng M Wu
Published data demonstrating the efficacy of complement inhibition therapy in patients with atypical hemolytic uremic syndrome (aHUS) are remarkable in contrast to the historically poor long-term prognosis for aHUS patients treated with plasma-based therapy. Although both aHUS and acquired thrombotic thrombocytopenic purpura (TTP) remain clinical diagnoses, an increased understanding of both conditions has improved our ability to differentiate aHUS from acquired TTP. These same data have also demonstrated the importance of a more rapid identification and diagnosis of aHUS as the recovery of end-organ injury present appears to be related to the time to initiate therapy with eculizumab...
April 17, 2014: Blood
Elizabeth C Schramm, Lubka T Roumenina, Tania Rybkine, Sophie Chauvet, Paula Vieira-Martins, Christophe Hue, Tara Maga, Elisabetta Valoti, Valerie Wilson, Sakari Jokiranta, Richard J H Smith, Marina Noris, Tim Goodship, John P Atkinson, Veronique Fremeaux-Bacchi
The pathogenesis of atypical hemolytic uremic syndrome (aHUS) is strongly linked to dysregulation of the alternative pathway of the complement system. Mutations in complement genes have been identified in about two-thirds of cases, with 5% to 15% being in C3. In this study, 23 aHUS-associated genetic changes in C3 were characterized relative to their interaction with the control proteins factor H (FH), membrane cofactor protein (MCP; CD46), and complement receptor 1 (CR1; CD35). In surface plasmon resonance experiments, 17 mutant recombinant proteins demonstrated a defect in binding to FH and/or MCP, whereas 2 demonstrated reduced binding to CR1...
April 9, 2015: Blood
Melissa Inman, Ginnie Prater, Huma Fatima, Eric Wallace
C3 glomerulopathy (C3G) is characterized by C3 deposits with minimal immunoglobulin deposition caused by alternative complement pathway dysregulation. Unfortunately, no therapeutic intervention has consistently improved outcomes for patients with C3G. Eculizumab, a monoclonal antibody to C5, is currently the only approved complement-specific agent with some efficacy in the treatment of C3 glomerulonephritis (C3GN). Here, we describe a patient with acute crescentic C3GN with no identified complement mutation or family history of renal disease who required dialysis for 6 months...
August 2015: Clinical Kidney Journal
2015-08-09 22:04:59
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