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Complement and hemolytic anemia

Valentina Talarico, Monica Aloe, Alice Monzani, Roberto Miniero, Gianni Bona
Hemolytic uremic syndrome (HUS) is a thrombotic microangiopathy defined by thrombocytopenia, non-immune microangiopathic hemolytic anemia and acute renal failure. HUS is typically classified into two primary types: 1) HUS due to infections, often associated with diarrhea (D+HUS, Shiga toxin-producing Escherichia Coli-HUS), with the rare exception of HUS due to a severe disseminated infection caused by Streptococcus; 2) HUS related to complement, such HUS is also known as "atypical HUS" and is not diarrhea associated (D-HUS, aHUS); but recent studies have shown other forms of HUS, that can occur in the course of systemic diseases or physiopathological conditions such as pregnancy, after transplantation or after drug assumption...
December 2016: Minerva Pediatrica
Yu-Min Shen
Atypical hemolytic uremic syndrome (aHUS) is a rare genetic disorder caused by defective complement regulation resulting in thrombotic microangiopathy (TMA). Patients can present as children or adults. The syndrome consists of hemolytic anemia with schistocytosis, thrombocytopenia, significant renal damage, and/or other organ system dysfunction(s). Patients with aHUS may succumb to the complications of the disease with the very first manifestation; surviving patients often suffer from progressive organ dysfunction with significant morbidity and mortality despite plasma infusion or plasma exchange...
2016: Thrombosis Journal
Yoshiko Murakami
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired GPI deficiency caused by somatic mutation of the PIGA gene in one or several hematopoietic stem cells. Recently, PNH caused by somatic mutation of one allele of the PIGT gene in combination with a germline mutation of the other allele was reported, showing that PIGA is not the only gene responsible for PNH, though other causes are rare. These mutant cells become GPI deficient, expand clonally and differentiate into all of the hematopoietic lineages. When GPI deficient erythrocytes increase in proportion, massive hemolysis occurs due to activated complement attack during infection...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Ulla Derhaschnig, Jim Gilbert, Ulrich Jäger, Georg Böhmig, Georg Stingl, Bernd Jilma
BACKGROUND: Innovative trial designs are sought to streamline drug development in rare diseases. Basket- and integrated protocol designs are two of these new strategies and have been applied in a handful oncologic trials. We have taken the concept outside the realm of oncology and report about a first-in-human integrated protocol design that facilitates the transition from phase Ia in healthy volunteers to phase Ib in patients with rare complement-mediated disorders driven by the classical pathway...
October 4, 2016: Orphanet Journal of Rare Diseases
Marta Subías Hidalgo, Hector Martin Merinero, Alicia López, Jaouad Anter, Sheila Pinto García, Fernando Ataúlfo Gonzalez-Fernández, Rafael Forés, Margarita Lopez-Trascasa, Ana Villegas, Emilio Ojeda, Santiago Rodríguez de Córdoba
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia characterized by complement-mediated intravascular hemolysis that is effectively treated with eculizumab. However, treatment responses are reported heterogeneous with some patients presenting residual hemolysis and requiring RBC transfusions. Recent reports have shown that both extravascular hemolysis and incomplete C5 blockade can explain these suboptimal hematological responses. Here we have tested our eculizumab-treated PNH patients (n=12) for signs of hemolysis and assessed complement biomarkers...
September 13, 2016: Immunobiology
Paola Ester López-Díaz, María Del Rocío Ruiz-Olivera, Luis Alberto Hernández-Osorio, Jaime Vargas-Arzola, Xareni Valle-Jiménez, Sergio Roberto Aguilar-Ruiz, Honorio Torres-Aguilar
Irregular antibodies are produced by alloimmunization because of pregnancies or blood transfusions. They are called "irregular" due to target erythrocyte antigens from "rare blood systems," those different from the ABO system. Irregular antibodies have been widely investigated in immunohematology since their presence in blood donors may lead to difficulties in blood typing and in blood cross-matching, or to induce hemolytic transfusion reactions. Nevertheless, their incidence and participation in the physiopathology of autoimmune diseases have not been thoroughly studied...
August 25, 2016: Immunologic Research
Rene S Bermea, Niharika Sharma, Kenneth Cohen, Vladimir M Liarski
Atypical hemolytic uremic syndrome is characterized by the presence of thrombocytopenia, microangiopathic hemolytic anemia, and end-organ injury. In this report, we describe two patients with systemic lupus erythematosus who presented with findings compatible with atypical hemolytic uremic syndrome, complicated by acute kidney injury that was refractory to conventional therapies. Both patients exhibited a response to eculizumab, a monoclonal antibody to complement protein C5, with stabilization of their platelet count...
September 2016: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
Hae Il Cheong, Sang Kyung Jo, Sung Soo Yoon, Heeyeon Cho, Jin Seok Kim, Young Ok Kim, Ja Ryong Koo, Yong Park, Young Seo Park, Jae Il Shin, Kee Hwan Yoo, Doyeun Oh
Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome characterized by micro-angiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The major pathogenesis of aHUS involves dysregulation of the complement system. Eculizumab, which blocks complement C5 activation, has recently been proven as an effective agent. Delayed diagnosis and treatment of aHUS can cause death or end-stage renal disease. Therefore, a diagnosis that differentiates aHUS from other forms of thrombotic microangiopathy is very important for appropriate management...
October 2016: Journal of Korean Medical Science
Ronald S Go, Jeffrey L Winters, Nelson Leung, David L Murray, Maria A Willrich, Roshini S Abraham, Hatem Amer, William J Hogan, Ariela L Marshall, Sanjeev Sethi, Cheryl L Tran, Dong Chen, Rajiv K Pruthi, Aneel A Ashrani, Fernando C Fervenza, Carl H Cramer, Vilmarie Rodriguez, Alexandra P Wolanskyj, Stephan D Thomé, C Christopher Hook
Thrombotic microangiopathies (TMAs) comprise a heterogeneous set of conditions linked by a common histopathologic finding of endothelial damage resulting in microvascular thromboses and potentially serious complications. The typical clinical presentation is microangiopathic hemolytic anemia accompanied by thrombocytopenia with varying degrees of organ ischemia. The differential diagnoses are generally broad, while the workup is frequently complex and can be confusing. This statement represents the joint recommendations from a multidisciplinary team of Mayo Clinic physicians specializing in the management of TMA...
September 2016: Mayo Clinic Proceedings
Tanapol Phondeechareon, Methichit Wattanapanitch, Yaowalak U-Pratya, Chanapa Damkham, Nuttha Klincumhom, Chanchao Lorthongpanich, Pakpoom Kheolamai, Chuti Laowtammathron, Surapol Issaragrisil
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia caused by lack of CD55 and CD59 on blood cell membrane leading to increased sensitivity of blood cells to complement. Hematopoietic stem cell transplantation (HSCT) is the only curative therapy for PNH, however, lack of HLA-matched donors and post-transplant complications are major concerns. Induced pluripotent stem cells (iPSCs) derived from patients are an attractive source for generating autologous HSCs to avoid adverse effects resulting from allogeneic HSCT...
October 2016: Annals of Hematology
Can Huzmeli, Ferhan Candan, Ayse Seker, Esin Yildiz, Hatice Terzi, Mansur Kayatas
BACKGROUND: Hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and Coombs-negative hemolytic anemia. In C3 mesangial proliferative glomerulonephritis, an increase in mesangial cell proliferation without thickening in the glomerular capillary wall can be seen under light microscopy, but the definitive diagnosis is made with the immunohistologic demonstration of isolated C3 deposits in the mesangium. C3 glomerulonephritis may be detected in childhood; however, in this case report we describe the first case of isolated C3 glomerulonephritis together with atypical hemolytic uremic syndrome in an adult patient...
2016: Journal of Medical Case Reports
Suvro Sankha Datta, Mahua Reddy, Sabita Basu, Shekhar Krishnan
A 12-year-old male child was presented in the emergency with features of anemia and mild icterus on day+67 of HSCT. The child was suffering from Fanconi anemia and undergone HSCT from ABO-matched, fully HLA matched sibling donor. The diagnosis of mixed type AIHA due to cytomegalovirus reactivation was made in the immunohematology laboratory and blood group discrepancy was the first sign of AIHA in this patient. Though the cold agglutinin titer was not significant but the clinical symptoms and laboratory evidences were suggestive of significant hemolysis due to underlying IgG autoantibody...
June 2016: Indian Journal of Hematology & Blood Transfusion
Ankur Jain, Pankaj Malhotra, Gaurav Prakash, Subhash Varma, Narender Kumar, Asim Das
Clinicians in hematology practice commonly encounter anemia, hypercalcemia and renal failure, which when present in combination evoke a diagnostic workup for multiple myeloma. We report a 71-years old lady who presented to our hematology clinic with fever and easy fatiguability of 3 months duration and on investigations was found to have anemia and hypercalcemia. Direct Coomb's test characterized the anemia as complement mediated (anti-C3d) hemolysis. Biochemical investigations revealed normal 25(OH) Vitamin D3 and suppressed Parathormone levels and a negative workup for plasma cell dyscrasias, sarcoidosis and autoimmune disorders...
June 2016: Indian Journal of Hematology & Blood Transfusion
Masayuki Ozaki, Yulin Kang, Ying Siow Tan, Vasile I Pavlov, Bohan Liu, Daniel C Boyle, Rafail I Kushak, Mikkel-Ole Skjoedt, Eric F Grabowski, Yasuhiko Taira, Gregory L Stahl
Hemolytic uremic syndrome caused by Shiga toxin-producing Escherichia coli (STEC HUS) is a worldwide endemic problem, and its pathophysiology is not fully elucidated. Here we tested whether the mannose-binding lectin (MBL2), an initiating factor of lectin complement pathway activation, plays a crucial role in STEC HUS. Using novel human MBL2-expressing mice (MBL2 KI) that lack murine Mbls (MBL2(+/+)Mbl1(-/-)Mbl2(-/-)), a novel STEC HUS model consisted of an intraperitoneal injection with Shiga toxin-2 (Stx-2) with or without anti-MBL2 antibody (3F8, intraperitoneal)...
October 2016: Kidney International
R Anders, M Grohmann, T H Lindner, C Bergmann, J Halbritter
We report on the case of a 32-year-old female patient who initially presented with oliguric acute renal failure, hemolytic anemia with moderate thrombocytopenia and subsequently developed a transient ischemic attack in the cerebellum. The kidney biopsy revealed clinically suspected atypical hemolytic-uremic syndrome (aHUS), which was confirmed by intraglomerular thrombotic microangiopathy (TMA). Treatment with plasmapheresis and sustained administration of the C5 inhibitor eculizumab resulted in hematological remission but without improvement of kidney function...
June 29, 2016: Der Internist
Antonio M Risitano, Serena Marotta
The introduction in the clinic of anti-complement agents represented a major achievement which gave to physicians a novel etiologic treatment for different human diseases. Indeed, the first anti-complement agent eculizumab has changed the treatment paradigm of paroxysmal nocturnal hemoglobinuria (PNH), dramatically impacting its severe clinical course. In addition, eculizumab is the first agent approved for atypical Hemolytic Uremic Syndrome (aHUS), a life-threatening inherited thrombotic microangiopathy. Nevertheless, such remarkable milestone in medicine has brought to the fore additional challenges for the scientific community...
June 2016: Seminars in Immunology
Heidi Ko, Hossein Maymani, Cristhiam Rojas-Hernandez
BACKGROUND: Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli O157:H7 has been widely known as a common cause of acute renal failure in children. There are only a few reports of sporadic Shiga toxin-producing Escherichia coli-hemolytic uremic syndrome in adults in the USA. Analyses from the 2011 outbreak of hemolytic uremic syndrome associated with Escherichia coli O104:H4 reported that mortality rates are highest in those patients with age >60-years old...
2016: Journal of Medical Case Reports
Toshiyuki Miyata, Yumiko Uchida, Yoko Yoshida, Hideki Kato, Masanori Matsumoto, Koichi Kokame, Yoshihiro Fujimura, Masaomi Nangaku
Atypical hemolytic uremic syndrome (aHUS), a form of thrombotic microangiopathy, is caused by the uncontrolled activation of the alternative pathway of complement on the cell surface that leads to microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. A recent genetic analysis of aHUS patients identified deleterious mutations not only in complement or complement regulatory genes but also in the plasminogen gene, suggesting that subnormal plasminogen activity may be related to the degradation of thrombi in aHUS...
August 2016: International Journal of Hematology
Alexander Åkesson, Anna M Blom, Jenny Klintman, Eva Zetterberg
BACKGROUND: Complement-mediated atypical hemolytic uremic syndrome (aHUS) is a rare disease with high mortality and morbidity if left untreated. The diagnostic work-up is complicated and the manifestations overlap with other conditions. Therefore, we hypothesize that complement-mediated aHUS is an underdiagnosed disease. METHODS: A cohort of 768 referrals referred to the Coagulation Unit in Malmo, Sweden, for analysis of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13), 2007-2012, were retrospectively reviewed...
May 13, 2016: Nephrology
David Watkins, David S Rosenblatt
BACKGROUND: Over the last forty years, our laboratory has accumulated a collection of over 1000 cultured fibroblast lines derived from patients from around the world referred with signs of inborn errors of cobalamin or folate metabolism, including several hundred with complementation-confirmed diagnoses. By accurately classifying patient disorders into classes representing blocks affecting specific reactions, we have provide the basis for rational assessment of phenotypic heterogeneity, and development of methods for diagnosis, treatment and prognosis...
July 2016: Biochimie
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