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Atypical Hemolytic Uremic Syndrome

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https://www.readbyqxmd.com/read/29674195/thrombotic-microangiopathies-of-pregnancy-differential-diagnosis
#1
REVIEW
M Gupta, B B Feinberg, R M Burwick
Thrombotic microangiopathy (TMA) disorders are characterized by microangiopathic hemolytic anemia, thrombocytopenia and end-organ injury. In pregnancy and postpartum, TMA is most commonly encountered with HELLP (hemolysis, elevated liver enzymes, low platelet count syndrome) or preeclampsia with severe features, but rarely TMA is due to thrombotic thrombocytopenic purpura (TTP) or atypical hemolytic uremic syndrome (aHUS). Due to overlapping clinical and laboratory features, TTP and aHUS are often mistaken for preeclampsia or HELLP...
February 16, 2018: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29670616/overactivity-of-alternative-pathway-convertases-in-patients-with-complement-mediated-renal-diseases
#2
Marloes A H M Michels, Nicole C A J van de Kar, Marcin Okrój, Anna M Blom, Sanne A W van Kraaij, Elena B Volokhina, Lambertus P W J van den Heuvel
Overactivation of the alternative pathway of the complement system is associated with the renal diseases atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G). C3 nephritic factors (C3NeF) play an important role in C3G pathogenesis by stabilizing the key enzymatic complex of complement, the C3 convertase. However, the reliability of assays detecting these autoantibodies is limited. Therefore, in this study, we validated and optimized a prototype hemolytic method for robust detection and characterization of factors causing convertase overactivity in large patient cohorts...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29661469/successful-7-year-eculizumab-treatment-of-plasmapheresis-resistant-recurrent-atypical-hemolytic-uremic-syndrome-due-to-complement-factor-h-hybrid-gene-a-case-report
#3
K Vondrák, T Seeman
Atypical hemolytic-uremic syndrome (aHUS) is an extremely rare disease, and up to 70% of the patients have a genetic mutation in the encoding components of complement activation or anti-complement factor H autoantibodies. The risk of recurrence after kidney transplantation is 10% to 80%. Eculizumab, a monoclonal antibody that binds complement protein C5, has shown to be highly effective in patients with aHUS; however, there are only few reports on the efficacy and safety of long-term eculizumab treatment in children with recurrent aHUS...
April 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29659362/-recurrent-atypical-hemolytic-uremic-syndrome-after-renal-transplantation-treatment-with-eculizumab
#4
Ana B Latzke, Pehuén Fernández, Carlos Chiurchiu, Daniela Sarmantano, Javier De Arteaga, Walter Douthat, Jorge De la Fuente
Atypical hemolytic uremic syndrome (aHUS) is a rare entity. It is characterized by a thrombotic microangiopathy (nonimmune hemolytic anemia, thrombocytopenia, and acute renal failure), with a typical histopathology of thickening of capillary and arteriolar walls and an obstructive thrombosis of the vascular lumen. The syndrome is produced by a genetic or acquired deregulation of the alternative pathway of the complement system, with high rates of end stage renal disease, post-transplant recurrence, and high mortality...
2018: Medicina
https://www.readbyqxmd.com/read/29657197/adamts-13-level-in-children-with-severe-diarrhea-associated-hemolytic-uremic-syndrome-unmasking-new-association
#5
Naglaa A Khalifa, Heba H Gawish, Noora A Khalifa, Doaa M Tawfeek, Saed M Morsy
Severe deficiency of ADAMTS-13 leads to thrombotic thrombocytopenic purpura. Few studies have reported reduced activity of ADAMTS-13 in patients with atypical and typical hemolytic uremic syndrome (HUS). We hypothesized that ADAMTS-13 deficiency might play a role in the pathogenesis of severe HUS. This study aimed to evaluate the ADAMTS-13 level in severe typical HUS. This prospective case-control study was carried out in the Pediatric Nephrology Unit and Clinical Pathology Department, Faculty of Medicine, Zagazig University from February 2013 to February 2014...
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29657196/atypical-hemolytic-uremic-syndrome-a-monocentric-adult-tunisian-study-and-review-of-literature
#6
R Kherder-Elfekih, M Hajji, L Ben Fatma, H Jebali, I Mami, W Smaoui, M Krid, L Rais, S Beji, K Zouaghi, M Sellami-Kallel
Atypical hemolytic uremic syndrome (aHUS) is characterized by microvascular thrombosis resulting in thrombocytopenia, hemolytic anemia, and multiorgan dysfunction. It is associated with genetic or acquired disorders of regulatory components of the complement system. For our study, we collected data from 16 patients diagnosed with aHUS between January 2010 and January 2014. The mean age was 33.6 years. The female-to-male ratio was 3. The median follow-up duration was 27 ± 3.5 months. The most common clinical presentation was hypertension...
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29657193/atypical-hemolytic-uremic-syndrome-laboratory-characteristics-complement-amplifying-conditions-renal-biopsy-and-genetic-mutations
#7
REVIEW
Mohammad A Hossain, Anmol Cheema, Sheila Kalathil, Ravneet Bajwa, Eric J Costanzo, James Cosentino, Jennifer Cheng, Tushar Vachharajani, Arif Asif
Atypical hemolytic uremic syndrome (aHUS) is characterized by microangiopathic hemolytic anemia, consumptive thrombocytopenia, and widespread damage to multiple organs including the kidney. The syndrome has a high mortality necessitating the need for an early diagnosis to limit target organ damage. Because thrombotic microangiopathies present with similar clinical picture, accurate diagnosis of aHUS continues to pose a diagnostic challenge. This article focuses on the role of four distinct aspects of aHUS that assist clinicians in making an accurate diagnosis of aHUS...
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29649283/design-and-preclinical-characterization-of-alxn1210-a-novel-anti-c5-antibody-with-extended-duration-of-action
#8
Douglas Sheridan, Zhao-Xue Yu, Yuchun Zhang, Rekha Patel, Fang Sun, Melissa A Lasaro, Keith Bouchard, Bruce Andrien, Andre Marozsan, Yi Wang, Paul Tamburini
Eculizumab, a monoclonal antibody (mAb) directed against complement protein C5, is considered to be the current standard of care for patients with paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome. This study describes the generation and preclinical attributes of ALXN1210, a new long-acting anti-C5 mAb, obtained through select modifications to eculizumab to both largely abolish target-mediated drug disposition (TMDD) and increase recycling efficiency via the neonatal Fc receptor (FcRn)...
2018: PloS One
https://www.readbyqxmd.com/read/29644059/mutations-in-membrane-cofactor-protein-cd46-gene-in-indian-children-with-hemolytic-uremic-syndrome
#9
Priyanka Khandelwal, Shweta Birla, Divya Bhatia, Mamta Puraswani, Himanshi Saini, Aditi Sinha, Pankaj Hari, Arundhati Sharma, Arvind Bagga
Background: Mutations in the CD46 gene account for an important proportion of patients with atypical hemolytic uremic syndrome (aHUS) who characteristically show multiple relapses, no response to plasma exchange and low recurrence risk in allograft. We screened for mutations in CD46 in patients with and without circulating anti-factor H (FH) antibodies-associated aHUS. Methods: We estimated CD46 surface expression by flow cytometry and sequenced the CD46 gene in 23 and 56 patients with and without circulating anti-FH antibodies, respectively...
April 2018: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29610995/extra-renal-manifestations-of-atypical-hemolytic-uremic-syndrome-in-children
#10
Kibriya Fidan, Nilüfer Göknar, Bora Gülhan, Engin Melek, Zeynep Y Yıldırım, Esra Baskın, Mutlu Hayran, Kaan Gülleroglu, Zeynep B Özçakar, Fatih Ozaltin, Oguz Soylemezoglu
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a chronic disease characterized by thrombotic microangiopathy and a high risk of end-stage kidney disease. Dysregulation and/or excessive activation of the complement system results in thrombotic microangiopathy. Interest in extrarenal manifestations of aHUS is increasing. This study aimed to determine the clinical characteristics of patients with extrarenal manifestations of aHUS in childhood. METHODS: This study included 70 children with extrarenal manifestations of HUS from the national Turkish aHUS Registry...
April 2, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29594148/c3-glomerulopathy-and-atypical-hemolytic-uremic-syndrome-two-important-manifestations-of-complement-system-dysfunction
#11
Ravneet Bajwa, John A DePalma, Taimoor Khan, Anmol Cheema, Sheila A Kalathil, Mohammad A Hossain, Attiya Haroon, Anne Madhurima, Min Zheng, Ali Nayer, Arif Asif
The advances in our understanding of the alternative pathway have emphasized that uncontrolled hyperactivity of this pathway causes 2 distinct disorders that adversely impact the kidney. In the so-called atypical hemolytic uremic syndrome (aHUS), renal dysfunction occurs along with thrombocytopenia, anemia, and target organ injury to multiple organs, most commonly the kidney. On the other hand, in the so-termed C3 glomerulopathy, kidney involvement is not associated with thrombocytopenia, anemia, or other system involvement...
January 2018: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/29582962/-atypical-hemolitic-uremic-syndrome-after-administration-of-docetaxel
#12
Alessandro Francesco Colombo, Rosalia Boito, Francesca Bova, Sebastiano Greco, Rosita Lucà, Arcangelo Sellaro, Giuseppe Rizzuto
The purpose of this study is to describe the clinical case of a patient suffering from a gland carcinoma with bilateral inguinal and pelvic lymph node metastases in treatment with weekly administrations of Docetaxel. After two therapy cycles, the patient developed an atypical uremic hemolytic Syndrome (SEUa), treated with infusions of frozen fresh plasma, hemodialysis, and antibiotics. Because of a severe septic secondary complication on an extensive lymph node abscess, the administration of Eculizumab was not possible...
March 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29579855/renal-transplant-immunosuppression-in-patients-with-hemolytic-uremic-syndrome-four-case-reports
#13
P Galindo, M Ramirez, A Pérez Marfil, M J Espigares, J M Osoria, R Leiva, M C Ruiz Fuentes, C De Gracia, A Osuna
A high rate of recurrence has been described in atypical hemolytic uremic syndrome renal transplant recipients, favored by certain immunosuppressant drugs that can induce complement activation. We present four case series in which three patients were diagnosed pretransplantation and a fourth who had onset in the very early post-transplantation period. The patients received different immunosuppression schedules, and all had improvement after more than 2-years. We suggest the need to stratify the risk of atypical hemolytic uremic syndrome recurrence using genetic studies and the available drugs as the main factors that allow graft survival improvement today...
March 2018: Transplantation Proceedings
https://www.readbyqxmd.com/read/29563942/atypical-hemolytic-uremic-syndrome-and-eculizumab-therapy-in-children
#14
REVIEW
Seong Heon Kim, Hye Young Kim, Su Young Kim
Hemolytic uremic syndrome (HUS) is often encountered in children with acute kidney injury. Besides the well-known shiga toxin-producing Escherichia coli -associated HUS, atypical HUS (aHUS) caused by genetic complement dysregulation has been studied recently. aHUS is a rare, chronic, and devastating disorder that progressively damages systemic organs, resulting in stroke, end-stage renal disease, and death. The traditional treatment for aHUS is mainly plasmapheresis or plasma infusion; however, many children with aHUS will progress to chronic kidney disease despite plasma therapy...
February 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29563339/germline-mutations-in-the-alternative-pathway-of-complement-predispose-to-hellp-syndrome
#15
Arthur J Vaught, Evan M Braunstein, Jagar Jasem, Xuan Yuan, Igor Makhlin, Solange Eloundou, Andrea C Baines, Samuel A Merrill, Shruti Chaturvedi, Karin Blakemore, C John Sperati, Robert A Brodsky
BACKGROUND: HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome is a severe variant of hypertensive disorders of pregnancy affecting approximately 1% of all pregnancies, and has significant maternal and fetal morbidity. Previously, we showed that upregulation of the alternative pathway of complement (APC) plays a role in HELLP syndrome. We hypothesize that HELLP syndrome follows a 2-hit disease model similar to atypical hemolytic uremic syndrome (aHUS), requiring both genetic susceptibility and an environmental risk factor...
March 22, 2018: JCI Insight
https://www.readbyqxmd.com/read/29558000/hemolytic-uremic-syndrome-with-dual-caution-in-an-infant-cobalamin-c-defect-and-complement-dysregulation-successfully-treated-with-eculizumab
#16
Ulkem Kocoglu Barlas, Hasan Serdar Kıhtır, Nilufer Goknar, Melike Ersoy, Nihal Akcay, Esra Sevketoglu
BACKGROUND: Hemolytic uremic syndrome (HUS) is a clinical syndrome characterized by hemolytic anemia, thrombocytopenia, and acute kidney injury. Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant mortality and high risk of progression to end-stage kidney disease. It is mostly caused by dysregulation of the alternative complement pathway. Cobalamin C (Cbl C) defect is a genetic disorder of cobalamin metabolism and is a rare cause of HUS. CASE-DIAGNOSIS/TREATMENT: We present a 6-month-old male infant who was admitted to the pediatric intensive care unit (PICU) due to restlessness, severe hypertension, anemia, respiratory distress, and acute kidney injury...
March 20, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29556035/functional-splicing-analysis-in-an-infantile-case-of-atypical-hemolytic-uremic-syndrome-caused-by-digenic-mutations-in-c3-and-mcp-genes
#17
Tomohiko Yamamura, Kandai Nozu, Hiroaki Ueda, Rika Fujimaru, Ryutaro Hisatomi, Yoko Yoshida, Hideki Kato, Masaomi Nangaku, Toshiyuki Miyata, Toshihiro Sawai, Shogo Minamikawa, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima
Pathogenic variants in specific complement-related genes lead to atypical hemolytic uremic syndrome (aHUS). Some reports have indicated that patients with digenic variants in these genes might present severer phenotypes. Upon detecting novel intronic variants, transcriptional analysis is necessary to prove pathogenicity; however, when intronic variants are located in intron 1 and, as a result, no transcript is produced, no appropriate method had been established to reveal the pathogenicity. Recently, the minigene assay was used to assess the pathogenicity of intronic variants...
March 19, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29555686/brain-microvascular-endothelial-cells-exhibit-lower-activation-of-the-alternative-complement-pathway-than-glomerular-microvascular-endothelial-cells
#18
Sarah E Sartain, Nancy A Turner, Joel L Moake
Atypical hemolytic uremic syndrome (aHUS) and bone marrow transplantation-associated thrombotic microangiopathy (TA-TMA) are associated with excessive activation of the alternative complement pathway (AP) and with severe renal - and rarely, cerebral - microvascular damage. Here, we compared AP activation and regulation in human glomerular and brain microvascular endothelial cells (GMVECs and BMVECs, respectively) unstimulated or stimulated by the proinflammatory cytokine, tumor necrosis factor (TNF). Compared with GMVECs and under both experimental conditions, BMVECs had increased gene expression of the AP-related genes C3 , CFB , and C5 , and decreased expression of CFD This was associated with increased expression in BMVECs (relative to GMVECs) of the genes for surface and soluble regulatory molecules ( CD46 , THBD , CD55 , CFI , and CFH ) suppressing formation of the AP C3 and C5 convertases...
March 19, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29552602/abdominal-pain-in-the-setting-of-atypical-hemolytic-uremic-syndrome-caused-by-streptococcus-pneumoniae-pneumonia
#19
Christina M Abrams, Diego R Hijano, Bindiya Bagga
No abstract text is available yet for this article.
2018: Global Pediatric Health
https://www.readbyqxmd.com/read/29552364/clinical-relapses-of-atypical-hus-on-eculizumab-clinical-gap-for-monitoring-and-individualised-therapy
#20
Chia Wei Teoh, Kathleen Mary Gorman, Bryan Lynch, Timothy H J Goodship, Niamh Marie Dolan, Mary Waldron, Michael Riordan, Atif Awan
Atypical hemolytic uremic syndrome (aHUS) is caused by dysregulation of the complement system. A humanised anti-C5 monoclonal antibody (eculizumab) is available for the treatment of aHUS. We present the first description of atypical HUS in a child with a coexistent diagnosis of a POL-III leukodystrophy. On standard eculizumab dosing regime, there was evidence of ongoing C5 cleavage and clinical relapses when immunologically challenged. Eculizumab is an effective therapy for aHUS, but the recommended doses may not be adequate for all patients, highlighting the need for ongoing efforts to develop a strategy for monitoring of treatment efficacy and potential individualisation of therapy...
2018: Case Reports in Nephrology
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