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Atypical Hemolytic Uremic Syndrome

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https://www.readbyqxmd.com/read/29447841/crispr-cas9-generated-human-cd46-cd55-and-cd59-knockout-cell-lines-as-a-tool-for-complement-research
#1
Astrid J F Thielen, Iris M van Baarsen, Marlieke L Jongsma, Sacha Zeerleder, Robbert M Spaapen, Diana Wouters
BACKGROUND: To prevent unwanted complement activation and subsequent damage, complement activation must be tightly regulated on healthy host cells. Dysregulation of the complement system contributes to the pathology of diseases like Paroxysmal Nocturnal Hemoglobinuria and atypical Hemolytic Uremic Syndrome. To investigate complement regulator deficiencies, primary patient cells may be used, but access to patient cells may be limited and cells are heterogeneous between different patients...
February 12, 2018: Journal of Immunological Methods
https://www.readbyqxmd.com/read/29434134/a-rare-case-of-lupus-nephritis-presenting-as-thrombotic-microangiopathy-with-diffuse-pseudotubulization-possibly-caused-by-atypical-hemolytic-uremic-syndrome
#2
Masafumi Ono, Naro Ohashi, Akio Namikawa, Naoko Katahashi, Sayaka Ishigaki, Naoko Tsuji, Shinsuke Isobe, Takamasa Iwakura, Yukitoshi Sakao, Takayuki Tsuji, Akihiko Kato, Yoshihide Fujigaki, Akira Shimizu, Hideo Yasuda
A 31-year-old woman was admitted to our hospital for thrombotic microangiopathy (TMA). She was diagnosed with systemic lupus erythematosus (SLE) and class V lupus nephritis. She had no aggravated SLE activity, Shiga toxin positivity, ADAMTS13 abnormality, or other causes of secondary TMA. Plasma exchange partially improved TMA, and eculizumab was introduced for suspected atypical hemolytic uremic syndrome (aHUS), as eculizumab was effective in suppressing the TMA activity. A kidney biopsy revealed diffusely organized crescents (pseudotubulization) with glomerular and arteriolar endothelial injury and subepithelial immune deposits...
February 9, 2018: Internal Medicine
https://www.readbyqxmd.com/read/29426622/atypical-hemolytic-uremic-syndrome-an-unusual-postoperative-complication
#3
S Mota, C Filipe, A L Almeida
INTRODUCTION AND OBJECTIVES: Thrombotic thrombocytopenic purpura and atypical haemolytic uremic syndrome (aHUS) are acute, rare, life-threatening thrombotic microangiopathies that require swift management. We report a case of acute microangiopathic haemolytic anaemia (MAHA) presenting in perioperative setting. CLINICAL CASE: After hepatic pericystectomy for hydatid cyst, a 46-year-old female developed MAHA, thrombocytopenia and acute renal failure in the immediate postoperative period...
February 6, 2018: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29399327/recent-advances-in-understanding-and-management-of-acquired-thrombocytopenia
#4
REVIEW
Srikanth Nagalla, Ravindra Sarode
There are numerous congenital and acquired causes of thrombocytopenia. Thrombocytopenia could be a result of decreased bone marrow production, increased consumption, increased destruction, splenic sequestration or a combination of these causes. In this review, we have focused on some of the serious acquired causes of thrombocytopenia. There have been some significant advances in our understanding of the pathophysiology, diagnostic testing, and treatment of immune thrombocytopenia, heparin-induced thrombocytopenia, thrombotic thrombocytopenic purpura, and atypical hemolytic uremic syndrome over the past five years...
2018: F1000Research
https://www.readbyqxmd.com/read/29370420/c3-glomerulonephritis-secondary-to-mutations-in-factors-h-and-i-rapid-recurrence-in-deceased-donor-kidney-transplant-effectively-treated-with-eculizumab
#5
Neetika Garg, Yuzhou Zhang, Anne Nicholson-Weller, Eliyahu V Khankin, Nicolò Ghiringhelli Borsa, Nicole C Meyer, Susan McDermott, Isaac E Stillman, Helmut G Rennke, Richard J Smith, Martha Pavlakis
Background: C3 glomerulonephritis (C3GN) is caused by alternate complement pathway over-activation. It frequently progresses to end-stage renal disease, recurs in two-thirds of transplants and in half of these cases progresses to allograft loss. There is currently no proven treatment for C3GN. Case Presentation: We describe a family segregating pathogenic alleles of complement factor H and I (CFH and CFI). The only member carrying both mutations developed C3GN. Prolonged delayed graft function after deceased donor transplantation, heavy proteinuria and isolated C3 hypocomplementemia prompted an allograft biopsy confirming diagnosis of recurrent C3GN...
January 23, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29357939/inherited-thrombotic-thrombocytopenic-purpura-mimicking-immune-thrombocytopenic-purpura-during-pregnancy-a-case-report
#6
Valter Romão de Souza, Ana Beatriz Cavalcante de Oliveira, Ana Maria Vanderlei, Amanda Queiroz da Mota Silveira Aroucha, Bruna Pontes Duarte, Aureli Nunes Machado, Lívia Netto Chaer, Cláudia Wanderley de Barros Correia, Maria da Conceição de Barros Correia, Manuela Freire Hazin Costa
BACKGROUND: Thrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene. The diagnosis is challenging due to the nonspecific signs and symptoms, as well as the rarity of the disease...
January 22, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29356300/pathophysiology-of-thrombotic-thrombocytopenic-purpura-and-hemolytic-uremic-syndrome
#7
Johanna A Kremer Hovinga, Silvan R Heeb, Magdalena Skowronska, Monica Schaller
Thrombotic microangiopathies are rare disorders characterized by the concomitant occurrence of severe thrombocytopenia, microangiopathic hemolytic anemia, and a variable degree of ischemic end organ damage. The latter particularly affects the brain, the heart and the kidneys. The primary forms, thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS), although in their clinical presentation often overlapping, have distinctive pathophysiologies. TTP is the consequence of a severe ADAMTS13 deficiency, immune-mediated due to circulating autoantibodies (iTTP), or caused by mutations in the ADAMTS13 gene (cTTP)...
January 22, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29352455/clinical-features-in-a-series-of-258-japanese-pediatric-patients-with-thrombotic-microangiopathy
#8
Akira Ashida, Hideki Matsumura, Toshihiro Sawai, Rika Fujimaru, Yuko Fujii, Akihiko Shirasu, Hyogo Nakakura, Kazumoto Iijima
BACKGROUND: Thrombotic microangiopathy (TMA) includes hemolytic uremic syndrome (HUS) and thrombotic thrombocytopenic purpura (TTP). This study examined the epidemiological characteristics of pediatric patients with TMA classified according to etiology. METHODS: The survey evaluated 258 Japanese pediatric patients diagnosed with TMA between 2012 and 2015. RESULTS: The primary diseases responsible for TMA were categorized as TTP (15 cases), Shiga toxin-producing Escherichia coli-associated HUS (STEC-HUS) (166 cases), atypical HUS (aHUS) (40 cases), and secondary TMA (27 cases)...
January 19, 2018: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29335241/the-mfhr1-fusion-protein-is-a-novel-synthetic-multitarget-complement-inhibitor-with-therapeutic-potential
#9
Stefan Michelfelder, Friedericke Fischer, Astrid Wäldin, Kim V Hörle, Martin Pohl, Juliana Parsons, Ralf Reski, Eva L Decker, Peter F Zipfel, Christine Skerka, Karsten Häffner
The complement system is essential for host defense, but uncontrolled complement system activation leads to severe, mostly renal pathologies, such as atypical hemolytic uremic syndrome or C3 glomerulopathy. Here, we investigated a novel combinational approach to modulate complement activation by targeting C3 and the terminal pathway simultaneously. The synthetic fusion protein MFHR1 links the regulatory domains of complement factor H (FH) with the C5 convertase/C5b-9 inhibitory fragment of the FH-related protein 1...
January 15, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29331477/atypical-presentation-of-pregnancy-related-hemolytic-uremic-syndrome
#10
Salim Baghli, Catherine Abendroth, Umar Farooq, Jennifer A Schaub
The cause of acute kidney injury during pregnancy and in the postpartum period can be particularly challenging to diagnose, especially when it is necessary to differentiate among preeclampsia; eclampsia; hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome; and thrombotic microangiopathies (TMAs). All these disease entities can present with kidney failure, microangiopathic hemolytic anemia, and thrombocytopenia. We present a teaching case of atypical hemolytic uremic syndrome in the postpartum period in a young woman who was found to have mutations of uncertain clinical significance in the complement cascade, including in C3, CFH, and CFI...
January 10, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29327071/diseases-of-complement-dysregulation-an-overview
#11
REVIEW
Edwin K S Wong, David Kavanagh
Atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and paroxysmal nocturnal hemoglobinuria (PNH) are prototypical disorders of complement dysregulation. Although complement overactivation is common to all, cell surface alternative pathway dysregulation (aHUS), fluid phase alternative pathway dysregulation (C3G), or terminal pathway dysregulation (PNH) predominates resulting in the very different phenotypes seen in these diseases. The mechanism underlying the dysregulation also varies with predominant acquired autoimmune (C3G), somatic mutations (PNH), or inherited germline mutations (aHUS) predisposing to disease...
January 11, 2018: Seminars in Immunopathology
https://www.readbyqxmd.com/read/29326853/purtscher-like-retinopathy-associated-with-atypical-hemolytic-uremic-syndrome
#12
Melih Ustaoğlu, Feyza Önder, Nilgün Solmaz, Savaş Öztürk, Mesut Ayer
A 25-year-old woman presented with acute bilateral blurred vision and history of headache, dizziness, and syncope for three days. Her visual acuity was 20/60 in both eyes. Fundoscopy revealed multiple bilateral peripapillary yellow-white patches like cotton wool spots, intraretinal hemorrhages and macular edema. The patient was diagnosed with Purtscher-like retinopathy based on the retinal findings and lack of trauma history. She was urgently admitted to the nephrology clinic due to thrombotic microangiopathy findings (hemoglobinemia, thrombocytopenia, and acute renal failure)...
December 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29322327/combined-and-sequential-liver-kidney-transplantation-in-children
#13
Ryszard Grenda, Piotr Kaliciński
Combined and sequential liver-kidney transplantation (CLKT and SLKT) is a definitive treatment in children with end-stage organ failure. There are two major indications: - terminal insufficiency of both organs, or - need for transplanting new liver as a source of lacking enzyme or specific regulator of the immune system in a patient with renal failure. A third (uncommon) option is secondary end-stage renal failure in liver transplant recipients. These three clinical settings use distinct qualification algorithms...
January 10, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29308213/case-series-of-3-patients-diagnosed-with-atypical-hemolytic-uremic-syndrome-successfully-treated-with-steroids-plasmapheresis-and-rituximab
#14
Jeffery M Patterson, Lauren Bolster, Loree Larratt
Rationale: Atypical hemolytic uremic syndrome, which has a high probability of chronic kidney disease, morbidity, and mortality, needs to be promptly recognized when patients present with microangiopathic hemolysis. Presenting Concerns of the Patient: Three patients present with laboratory parameters consistent with a thrombotic microangiopathy. With a suspected diagnosis of thrombotic thrombocytopenic purpura, steroids with plasmapheresis were initiated. Diagnoses: With ADAMTS13 levels reported normal, the suspected diagnoses were reevaluated...
2018: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/29282226/maternal-and-fetal-outcomes-of-pregnancies-in-women-with-atypical-hemolytic-uremic-syndrome
#15
Martina Gaggl, Christof Aigner, Dorottya Csuka, Ágnes Szilágyi, Zoltán Prohászka, Renate Kain, Natalja Haninger, Maarten Knechtelsdorfer, Raute Sunder-Plassmann, Gere Sunder-Plassmann, Alice Schmidt
Atypical HUS (aHUS) is a disorder most commonly caused by inherited defects of the alternative pathway of complement, or the proteins that regulate this pathway, and life-threatening episodes of aHUS can be provoked by pregnancy. We retrospectively and prospectively investigated 27 maternal and fetal pregnancy outcomes in 14 women with aHUS from the Vienna Thrombotic Microangiopathy Cohort. Seven pregnancies (26%) were complicated by pregnancy-associated aHUS (p-aHUS), of which three appeared to be provoked by infection, bleeding, and curettage, and three individuals were considered to have preeclampsia/HELLP syndrome before the definitive diagnosis of p-aHUS was made...
December 27, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29250893/atypical-hemolytic-uremic-syndrome-a-meta-analysis-of-case-reports-confirms-the-prevalence-of-genetic-mutations-and-the-shift-of-treatment-regimens
#16
Vinod Krishnappa, Mohit Gupta, Mohamed Elrifai, Bahar Moftakhar, Michael J Ensley, Tushar J Vachharajani, Sidharth Kumar Sethi, Rupesh Raina
Atypical hemolytic uremic syndrome (aHUS) is a rare life-threatening thrombotic microangiopathy (TMA) affecting multiple organ systems. Recently, aHUS has been shown to be associated with uncontrolled complement activation due to mutations in the alternative pathway of complement components paving the way for targeted drug therapy. By meta-analysis of case reports, we discuss the impact of new treatment strategies on the resolution time of aHUS symptoms and mortality, and the distribution of genetic mutations...
December 17, 2017: Therapeutic Apheresis and Dialysis
https://www.readbyqxmd.com/read/29248304/glucose-6-phosphate-dehydrogenase-deficiency-mimicking-atypical-hemolytic-uremic-syndrome
#17
Patrick R Walsh, Sally Johnson, Vicky Brocklebank, Jacobo Salvatore, Martin Christian, David Kavanagh
A 4-year-old boy presented with nonimmune hemolysis, thrombocytopenia, and acute kidney injury. Investigations for an underlying cause failed to identify a definitive cause and a putative diagnosis of complement-mediated atypical hemolytic uremic syndrome (aHUS) was made. The patient was started initially on plasma exchange and subsequently eculizumab therapy, after which his kidney function rapidly improved. While on eculizumab therapy, despite adequate complement blockade, he presented 2 more times with hemolytic anemia and thrombocytopenia, but without renal involvement...
December 13, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29243465/atypical-hemolytic-uremic-syndrome
#18
REVIEW
Kati Kaartinen, Leena Martola, Seppo Meri
Atypical hemolytic-uremic syndrome (aHUS) is a rare form of thrombotic microagiopathy caused dysregulation of the alternative pathway of the complement resulting in tissue. In aHUS, activation of the alternative pathway of the complement is in an aberrant way directed against endothelial cells and blood cells. This is either due to a mutation in a complement factor, most commonly factor H, or an autoantibody against a complement regulator. In some patients the underlying disorder is not identified despite thorough examinations...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29241200/atypical-hemolytic-uremic-syndrome-associated-with-complement-factor-h-mutation-and-iga-nephropathy-a-case-report-successfully-treated-with-eculizumab
#19
Hironori Nakamura, Mariko Anayama, Mutsuki Makino, Yasushi Makino, Katsuhiko Tamura, Masaki Nagasawa
We present a rare case of IgA nephropathy in a patient who developed atypical hemolytic uremic syndrome (aHUS) associated with a complement factor H (CFH) gene mutation, and who was successfully treated with eculizmab. A 76-year-old man was admitted as the patients had thrombotic microangiopathies findings. The patient was treated with plasma exchange, hemodialysis and methylprednisolone. A disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 level was not decreased. Light microscopy findings were consistent with hemolytic uremic syndrome and immunofluorescence analysis revealed IgA and C3 were detected...
December 14, 2017: Nephron
https://www.readbyqxmd.com/read/29226095/atypical-hemolytic-uremic-syndrome-due-to-complement-factor-i-mutation
#20
Abdullah H Almalki, Laila F Sadagah, Mohammed Qureshi, Hatim Maghrabi, Abdulrahman Algain, Ahmed Alsaeed
Atypical hemolytic-uremic syndrome (aHUS) is a rare disease of complement dysregulation leading to thrombotic microangiopathy (TMA). Renal involvement and progression to end-stage renal disease are common in untreated patients. We report a 52-year-old female patient who presented with severe acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. She was managed with steroid, plasma exchange, and dialysis. Kidney biopsy shows TMA and renal cortical necrosis. Genetic analysis reveals heterozygous complement factor I (CFI) mutation...
November 6, 2017: World Journal of Nephrology
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