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Rubén Martínez-Barricarte, Meike Heurich, Andrés López-Perrote, Agustin Tortajada, Sheila Pinto, Margarita López-Trascasa, Pilar Sánchez-Corral, B Paul Morgan, Oscar Llorca, Claire L Harris, Santiago Rodríguez de Córdoba
Atypical hemolytic uremic syndrome (aHUS) associates with complement dysregulation caused by mutations and polymorphisms in complement activators and regulators. However, the reasons why some mutations in complement proteins predispose to aHUS are poorly understood. Here, we have investigated the functional consequences of three aHUS-associated mutations in C3, R592W, R161W and I1157T. First, we provide evidence that penetrance and disease severity for these mutations is modulated by inheritance of documented "risk" haplotypes as has been observed with mutations in other complement genes...
August 2015: Molecular Immunology
Frida C Mohlin, Sara C Nilsson, Tanja Kersnik Levart, Ema Golubovic, Krisztina Rusai, Thomas Müller-Sacherer, Klaus Arbeiter, Éva Pállinger, Nóra Szarvas, Dorottya Csuka, Ágnes Szilágyi, Bruno O Villoutreix, Zoltán Prohászka, Anna M Blom
Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation, characterized by hemolytic anemia, thrombocytopenia and acute renal failure. Mutations in complement inhibitors are major risk factors for development of aHUS. The three aHUS patients reported in this study had several previously identified alterations in complement inhibitors; e.g. risk haplotypes in CD46 and factor H but we also identified two novel heterozygous non-synonymous CD46 alterations (p.E142Q and p.G259V). Presence of G259V caused decreased expression of the recombinant mutant CD46 compared to wild type (WT)...
June 2015: Molecular Immunology
Dino Mijatovic, Ana Blagaic, Zeljko Zupan
INTRODUCTION: Hemolytic-uremic syndrome (HUS) is a leading cause of acute renal failure in infants and young children. It is traditionally defined as a triad of acute renal failure, hemolytic anemia and thrombocytopenia that occur within a week after prodromal hemorrhagic enterocolitis. Severe cases can also be presented by acute respiratory distress syndrome (ARDS), toxic megacolon with ileus, pancreatitis, central nervous system (CNS) disorders and multiple organ failure (MOF). CASE PRESENTATION: A previously healthy 4-year old Caucasian girl developed acute renal failure, thrombocytopenia and hemolytic anemia following a short episode of abdominal pain and bloody diarrhea...
2014: F1000Research
Sanjeev Sethi, Fernando C Fervenza
Dysfunction of the alternative pathway of complement in the fluid phase results in deposition of complement factors in the renal glomeruli. This results in glomerular injury and an ensuing proliferative response. The term "C3 glomerulopathy" is used to define such an entity. It includes both C3 glomerulonephritis and dense deposit disease (DDD). Both C3 glomerulonephritis and DDD are characterized by a proliferative glomerulonephritis and bright glomerular C3 mesangial and capillary wall staining with the absence or scant staining for immunoglobulins (Ig)...
June 2014: Seminars in Thrombosis and Hemostasis
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
Fengxiao Bu, Tara Maga, Nicole C Meyer, Kai Wang, Christie P Thomas, Carla M Nester, Richard J H Smith
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy caused by uncontrolled activation of the alternative pathway of complement at the cell surface level that leads to microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. In approximately one half of affected patients, pathogenic loss-of-function variants in regulators of complement or gain-of-function variants in effectors of complement are identified, clearly implicating complement in aHUS. However, there are strong lines of evidence supporting the presence of additional genetic contributions to this disease...
January 2014: Journal of the American Society of Nephrology: JASN
Marie Frimat, Fanny Tabarin, Jordan D Dimitrov, Caroline Poitou, Lise Halbwachs-Mecarelli, Veronique Fremeaux-Bacchi, Lubka T Roumenina
Atypical hemolytic uremic syndrome (aHUS) is characterized by genetic and acquired abnormalities of the complement system leading to alternative pathway (AP) overactivation and by glomerular endothelial damage, thrombosis, and mechanical hemolysis. Mutations per se are not sufficient to induce aHUS, and nonspecific primary triggers are required for disease manifestation. We investigated whether hemolysis-derived heme contributes to aHUS pathogenesis. We confirmed that heme activates complement AP in normal human serum, releasing C3a, C5a, and sC5b9...
July 11, 2013: Blood
Elena Bresin, Erica Rurali, Jessica Caprioli, Pilar Sanchez-Corral, Veronique Fremeaux-Bacchi, Santiago Rodriguez de Cordoba, Sheila Pinto, Timothy H J Goodship, Marta Alberti, David Ribes, Elisabetta Valoti, Giuseppe Remuzzi, Marina Noris
Several abnormalities in complement genes reportedly contribute to atypical hemolytic uremic syndrome (aHUS), but incomplete penetrance suggests that additional factors are necessary for the disease to manifest. Here, we sought to describe genotype-phenotype correlations among patients with combined mutations, defined as mutations in more than one complement gene. We screened 795 patients with aHUS and identified single mutations in 41% and combined mutations in 3%. Only 8%-10% of patients with mutations in CFH, C3, or CFB had combined mutations, whereas approximately 25% of patients with mutations in MCP or CFI had combined mutations...
February 2013: Journal of the American Society of Nephrology: JASN
Karen K Swisher, John T Doan, Sara K Vesely, Hau C Kwaan, Benjamin Kim, Bernhard Lämmle, Johanna A Kremer Hovinga, James N George
BACKGROUND AND OBJECTIVES: The thrombotic thrombocytopenic purpura-hemolytic uremic syndromes (TTP-HUS) have diverse etiologies, clinical manifestations, and risk factors, but the events that may trigger acute episodes are often unclear. We describe the occurrence of TTP-HUS following pancreatitis and consider whether pancreatitis may be a triggering event for acute episodes of TTP-HUS. DESIGN AND METHODS: We report on three patients from the Oklahoma Registry and two patients from Northwestern University who had an acute episode of TTP-HUS following pancreatitis...
July 2007: Haematologica
P Robitaille, M Gonthier, A Grignon, P Russo
In a retrospective review of 241 cases with hemolytic-uremic syndrome, there was evidence of pancreatic involvement in 2 patients, abnormal ultrasounds in 4 patients, and pancreatic injury in 3 of 8 patients undergoing autopsy. Pancreas ultrasound examination, available in 134 cases, was very valuable in identifying those with pancreatic injury.
October 1997: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
V A Silva
Pancreatitis is a rare (approximately 2.0%) complication of thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS). The opposite finding has rarely been reported. We present a case of an 18 years old obese male with alcohol associated pancreatitis (amylase 840 IU/L) who three days after onset, as the pancreatitis subsided (amylase 341 U/L), developed TTP/HUS. The TTP/HUS was marked by oliguria and severe renal failure (creatinine 1,326 mumol/L), was treated with daily plasma exchanges, obtained a complete response, and recovered renal function (creatinine 115 mumol/L)...
September 1995: American Journal of Hematology
M L Brandt, S O'Regan, E Rousseau, S Yazbeck
Hemolytic-uremic syndrome (HUS) of childhood is a triad of acute hemolytic anemia, thrombocytopenia, and acute renal failure associated with a gastrointestinal prodrome. From 1977 to 1988, 134 patients with HUS were admitted to this institution. All patients presented with abdominal pain and diarrhea, which was virtually always bloody. Seventy-eight patients (60%) required dialysis. Five patients died (4%). One patient died as a result of colon perforation, the other four patients died of other nonsurgical complications of HUS...
November 1990: Journal of Pediatric Surgery
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