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Atypical haemolytic uraemic syndrome

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https://www.readbyqxmd.com/read/28748411/the-role-of-von-willebrand-factor-in-thrombotic-microangiopathy
#1
REVIEW
Damien G Noone, Magdalena Riedl, Christoph Licht
Thrombotic microangiopathy (TMA) is caused by thrombus formation in the microvasculature. The disease spectrum of TMA includes, amongst others, thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS). TTP is caused by defective cleavage of von Willebrand factor (VWF), whereas aHUS is caused by overshooting complement activation and subsequent endothelial cell (EC) injury. Despite their distinct pathophysiology, the clinical manifestation of TTP and aHUS consisting of microangiopathic haemolytic anaemia and thrombocytopenia is often similar and difficult to distinguish...
July 26, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28638625/early-eculizumab-use-in-atypical-haemolytic-uraemic-syndrome-in-a-jehovah-s-witness-refusing-blood-products
#2
May Al-Shaghana, Andrew Bentall, Mark D Jesky, William Lester, Graham Lipkin
Thrombotic microangiopathy (TMA) is characterized by microscopic angiopathic haemolytic anaemia, thrombocytopenia and organ injury. Supportive therapies include the use of blood products. Recently the terminal complement inhibitor eculizumab has been approved in atypical haemolytic uraemic syndrome (aHUS) in some countries. We report the case of a 23-year-old female Jehovah's Witness presenting with vaginal haemorrhage from thrombocytopaenia, severe anaemia (nadir Hb 28 g/L) and anuric acute kidney injury with TMA secondary to aHUS...
June 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28637873/disease-linked-mutations-in-factor-h-reveal-pivotal-role-of-cofactor-activity-in-self-surface-selective-regulation-of-complement-activation
#3
Heather Kerr, Edwin Wong, Elisavet Makou, Yi Yang, Kevin Marchbank, David Kavanagh, Anna Richards, Andrew P Herbert, Paul N Barlow
Spontaneous activation enables the complement system to respond very rapidly to diverse threats. Activation is efficiently suppressed by complement factor H (CFH) on self surfaces but not foreign surfaces. The surface selectivity of CFH, a soluble protein containing 20 CCP modules (CCPs 1-20), may be compromised by disease-linked mutations. Which of the several functions of CFH drives its self-surface selectivity remains unknown. We made human CFH mutants in Pichia pastoris. In benchmark studies of CCP-1 variants, recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH while R53H-CFH, linked to atypical haemolytic uraemic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I-cofactor activity (CA)...
June 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28621343/current-evidence-on-the-discontinuation-of-eculizumab-in-patients-with-atypical-haemolytic-uraemic-syndrome
#4
COMMENT
Manuel Macia, Fernando de Alvaro Moreno, Tina Dutt, Ingela Fehrman, Karine Hadaya, Christoph Gasteyger, Nils Heyne
Background. Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening disorder for which eculizumab is the only approved treatment. Life-long treatment is indicated; however, eculizumab discontinuation has been reported. Methods. Unpublished authors' cases and published cases of eculizumab discontinuation are reviewed. We also report eculizumab discontinuation data from five clinical trials, plus long-term extensions and the global aHUS Registry. Results. Of six unpublished authors' cases, four patients had a subsequent thrombotic microangiopathy (TMA) manifestation within 12 months of discontinuation...
June 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28446488/eculizumab-in-a-child-with-atypical-haemolytic-uraemic-syndrome-and-haemophagocytic-lymphohistiocytosis-triggered-by-cytomegalovirus-infection
#5
Gloria M Fraga-Rodriguez, Sonia Brió-Sanagustin, Eulalia Turón-Viñas, Bradley P Dixon, Eduardo Carreras-González
We present the case of a 21-month-old girl with two rare and life-threatening conditions, atypical haemolytic uraemic syndrome (aHUS) and haemophagocytic lymphohistiocytosis (HLH), triggered by a cytomegalovirus (CMV) infection. Soon after admission, the girl became anuric and required continuous venovenous haemodiafiltration.Initial treatments included methylprednisolone, fibrinogen and plasma infusion (for HLH), plasmapheresis (for thrombotic microangiopathy), immunoglobulins (for inflammation), ganciclovir (for CMV infection) and the antibiotic cefotaxime...
April 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28442312/expert-statements-on-the-standard-of-care-in-critically-ill-adult-patients-with-atypical-haemolytic-uraemic-syndrome
#6
REVIEW
Elie Azoulay, Paul Knoebl, José Garnacho-Montero, Katerina Rusinova, Gennadii Galstian, Philippe Eggimann, Fekri Abroug, Dominique Benoit, Michael von Bergwelt-Baildon, Julia Wendon, Marie Scully
BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) presents similarly to thrombotic thrombocytopenic purpura (TTP), and other causes or conditions with thrombotic microangiopathy (TMA) such as DIC or sepsis. Similarity in clinical presentation may hinder diagnosis and optimal treatment selection in the urgent setting in the ICU. However, there is currently no consensus on the diagnosis or treatment of aHUS for ICU specialists. This review aims to summarise available data on the diagnosis and treatment strategies of aHUS in the ICU in order to enhance the understanding of aHUS diagnosis and outcomes in patients managed in the ICU...
April 22, 2017: Chest
https://www.readbyqxmd.com/read/28426384/a-2-year-old-boy-with-circulatory-failure-owing-to-streptococcal-toxic-shock-syndrome-case-report
#7
Werner Keenswijk, Johan Vande Walle
A 2-year-old boy presented with severe hypotension and acute kidney injury after a prodrome of non-bloody diarrhoea and fever in the preceding 3 days. He had a mild Ebstein cardiac anomaly but otherwise a normal past history and growth. On examination, he looked ill, his temperature was 37.5 °C, circulation was poor, and there were several purpuric lesions on the face, hands and scrotum. Haemoglobin was 7.8 g/dL (11-14), total white cell count 27 × 10(9)/L, platelets 62 × 10(9)/L, blood urea nitrogen 20...
April 20, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28407128/the-bittersweet-taste-of-tubulo-interstitial-glycans
#8
REVIEW
Ditmer T Talsma, Mohamed R Daha, Jacob van den Born
Recently, interesting work was published by Farrar et al. [1] showing the interaction of fucosylated glycoproteins on stressed tubular epithelial cells with collectin-11 leading to complement activation via the lectin route of complement. This elegant work stimulated us to evaluate the dark side (bittersweet taste) of tubulo-interstitial glycans in kidney tissue damage. As will be discussed, glycans not only initiate tubular complement activation but also orchestrate tubulo-interstitial leucocyte recruitment and growth factor responses...
April 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28391343/cost-effectiveness-of-eculizumab-treatment-after-kidney-transplantation-in-patients-with-atypical-haemolytic-uraemic-syndrome
#9
Jan A J G van den Brand, Jacobien C Verhave, Eddy M Adang, Jack F M Wetzels
Background: Kidney transplantation in patients with atypical haemolytic uraemic syndrome (aHUS) is frequently complicated by recurrence of aHUS, often resulting in graft loss. Eculizumab prophylaxis prevents recurrence, improving graft survival. An alternative treatment strategy has been proposed where eculizumab is administered upon recurrence. We combined available evidence and performed a cost-effectiveness analysis of these competing strategies. Methods: A cost-effectiveness analysis using a decision analytical approach with Markov chain analyses was used to compare alternatives for aHUS patients with end-stage renal disease (ESRD): (i) dialysis treatment, (ii) kidney transplantation, (iii) kidney transplantation with eculizumab therapy upon recurrence of aHUS, (iv) kidney transplantation with eculizumab induction consisting of 12 months of prophylaxis and (v) kidney transplantation with lifelong eculizumab prophylaxis...
January 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28357591/development-and-pretesting-of-a-questionnaire-to-assess-patient-experiences-and-satisfaction-with-medications-pesam-questionnaire
#10
Merel L Kimman, Adrienne H Rotteveel, Marlies Wijsenbeek, Rémy Mostard, Nelleke C Tak, Xana van Jaarsveld, Marjolein Storm, Kioa L Wijnsma, Marielle Gelens, Nicole C A J van de Kar, Jack Wetzels, Carmen D Dirksen
BACKGROUND: The aim of this study was to develop, together with the Lung Foundation Netherlands and Dutch Kidney Patients Association, patients and clinicians, a measure to evaluate patient experiences with the orphan drugs pirfenidone (for idiopathic pulmonary fibrosis [IPF]) and eculizumab (for atypical haemolytic uraemic syndrome [aHUS]), as well as a generic measure of patient experiences and satisfaction with medications. METHODS: Development of the Patient Experiences and Satisfaction with Medications (PESaM) questionnaire consisted of four phases: literature review (phase I); focus groups and individual patient interviews (phase II); item generation (phase III); and face and content validity testing (phase IV)...
March 29, 2017: Patient
https://www.readbyqxmd.com/read/28347544/ocular-involvement-in-atypical-haemolytic-uraemic-syndrome
#11
A Sampedro López, B Domínguez Moro, J M Baltar Martin, C Garcia Monteavaro, J J Barbón García
CASE REPORT: The case is presented of a young man with an atypical haemolytic-uraemic syndrome (aHUS), complicated with bilateral serous retinal detachment, cotton wool spots, and a branch artery occlusion. Treatment with plasmapheresis, haemodialysis and systemic eculizumab led to the blood and urine parameters returning to normal, as well as resolution of the retinal anomalies. Genetic analysis show both mutations in complement factor H and C3. DISCUSSION: Haemolytic-uraemic syndrome (HUS) is a thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute renal failure...
March 24, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28339660/eculizumab-in-secondary-atypical-haemolytic-uraemic-syndrome
#12
Teresa Cavero, Cristina Rabasco, Antía López, Elena Román, Ana Ávila, Ángel Sevillano, Ana Huerta, Jorge Rojas-Rivera, Carolina Fuentes, Miquel Blasco, Ana Jarque, Alba García, Santiago Mendizabal, Eva Gavela, Manuel Macía, Luis F Quintana, Ana María Romera, Josefa Borrego, Emi Arjona, Mario Espinosa, José Portolés, Carolina Gracia-Iguacel, Emilio González-Parra, Pedro Aljama, Enrique Morales, Mercedes Cao, Santiago Rodríguez de Córdoba, Manuel Praga
Background: Complement dysregulation occurs in thrombotic microangiopathies (TMAs) other than primary atypical haemolytic uraemic syndrome (aHUS). A few of these patients have been reported previously to be successfully treated with eculizumab. Methods: We identified 29 patients with so-called secondary aHUS who had received eculizumab at 11 Spanish nephrology centres. Primary outcome was TMA resolution, defined by a normalization of platelet count (>150 × 10 9 /L) and haemoglobin, disappearance of all the markers of microangiopathic haemolytic anaemia (MAHA), and improvement of renal function, with a ≥25% reduction of serum creatinine from the onset of eculizumab administration...
March 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28242109/haemolytic-uraemic-syndrome
#13
REVIEW
Fadi Fakhouri, Julien Zuber, Véronique Frémeaux-Bacchi, Chantal Loirat
Haemolytic uraemic syndrome is a form of thrombotic microangiopathy affecting predominantly the kidney and characterised by a triad of thrombocytopenia, mechanical haemolytic anaemia, and acute kidney injury. The term encompasses several disorders: shiga toxin-induced and pneumococcus-induced haemolytic uraemic syndrome, haemolytic uraemic syndrome associated with complement dysregulation or mutation of diacylglycerol kinase ɛ, haemolytic uraemic syndrome related to cobalamin C defect, and haemolytic uraemic syndrome secondary to a heterogeneous group of causes (infections, drugs, cancer, and systemic diseases)...
February 25, 2017: Lancet
https://www.readbyqxmd.com/read/28176479/long-term-remission-with-eculizumab-in-atypical-haemolytic-uraemic-syndrome
#14
REVIEW
Simon Carter, Ian Hewitt, Joshua Kausman
The understanding of the role of complement dysregulation in atypical haemolytic uraemic syndrome (aHUS) has led to major changes in therapeutic approaches and outcomes. Eculizumab is a humanized anti-C5 monoclonal antibody that inhibits the terminal complement pathway and has revolutionized the treatment and prognosis of aHUS. However, published reports to date have had relatively short-term follow-up. We report two paediatric cases of aHUS successfully treated with eculizumab longer than 6 years with no serious adverse events and preservation of renal function...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28176477/absence-of-thrombocytopaenia-and-or-microangiopathic-haemolytic-anaemia-does-not-reliably-exclude-recurrence-of-atypical-haemolytic-uraemic-syndrome-after-kidney-transplantation
#15
REVIEW
Anoushka R Krishnan, Brian Siva, Aron Chakera, Germaine Wong, Daniel Wong, Wai H Lim
A 54-year-old man was diagnosed with atypical haemolytic uraemic syndrome (aHUS) with confirmed complement H mutation in 2012, requiring ongoing dialysis. He was commenced on eculizumab in 2014 once the pharmaceutical board approved this drug. After 4 months, he received a live unrelated donor renal transplant from his wife and continued eculizumab post-transplant. Three months later, there was a rise in his creatinine with no laboratory features of haemolysis and a kidney biopsy confirmed rejection, which was treated with increased immunosuppression...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28176476/recurrent-atypical-haemolytic-uraemic-syndrome-post-kidney-transplant-due-to-a-cd46-mutation-in-the-setting-of-smarcal1-mediated-inherited-kidney-disease
#16
REVIEW
Samuel Chan, Andrew J Mallett, Chirag Patel, Ross S Francis, David W Johnson, David W Mudge, Nicole M Isbel
Disorders in the regulation of the alternate complement pathway often result in complement-mediated damage to the microvascular endothelium and can be associated with both glomerulonephritis and atypical haemolytic uraemic syndrome. Inherited defects in complement regulatory genes or autoantibodies against complement regulatory proteins are predictive of the severity of the disease and the risk of recurrence post kidney transplantation. Heterozygous mutations in CD46, which codes for a transmembrane cofactor glycoprotein membrane cofactor protein, usually have a lower incidence of end-stage kidney disease and decreased risk of recurrent disease post transplant, as wild-type membrane cofactor protein is present in the transplanted kidney...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28176475/life-threatening-pregnancy-associated-atypical-haemolytic-uraemic-syndrome-and-its-response-to-eculizumab
#17
REVIEW
Ryan Gately, Aye San, Jagadeesh Kurtkoti, Alan Parnham
Pregnancy-associated atypical haemolytic uraemic syndrome (P-aHUS) is a rare, potentially lethal condition that can complicate pregnancy in up to 1 in 25 000 cases. Without prompt diagnosis and initiation of appropriate treatment, this condition can lead to disastrous consequences for both mother and child. Given the broad spectrum of conditions that can present similarly in the peripartum period, it is often difficult to establish the correct diagnosis in a timely manner. Recently, the terminal complement cascade inhibitor eculizumab has been used with considerable success in non-pregnancy HUS; however, its use in P-aHUS is limited to isolated case reports...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28176474/monoclonal-gammopathy-of-renal-significance-triggering-atypical-haemolytic-uraemic-syndrome
#18
REVIEW
Usman Mahmood, Nicole Isbel, Peter Mollee, Andrew Mallett, Sridevi Govindarajulu, Ross Francis
Haemolytic uraemic syndrome is a rare condition with an overall incidence of one to two cases in a population of 100 000 and approximately 10% of these cases are classified as atypical. Atypical haemolytic uraemic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by microangiopathic haemolytic anaemia (MAHA), thrombocytopenia and acute kidney injury. aHUS can be genetic, acquired or idiopathic (negative genetic screening and no environmental triggers). We describe a case of aHUS triggered by monoclonal gammopathy of renal significance (MGRS) successfully treated with plasmapheresis and a bortezomib-based chemotherapy regimen, resulting in marked improvement in renal function and other markers of haemolysis...
February 2017: Nephrology
https://www.readbyqxmd.com/read/28176472/suspected-atypical-haemolytic-uraemic-syndrome-in-two-post-partum-patients-with-foetal-death-in-utero-responding-to-eculizumab
#19
REVIEW
Justin Chua, Kathy Paizis, Simon Z He, Peter Mount
BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) is a rare condition with the triad of microangiopathic haemolytic anaemia, thrombocytopenia and acute kidney injury. Other conditions that present in a similar manner peri-partum include thrombotic thrombocytopaenic purpura, and pregnancy associated conditions including HELLP syndrome (haemolysis, elevated liver enzymes and low platelets), severe pre-eclampsia and less commonly acute fatty liver of pregnancy. CASE REPORTS: We describe two cases of suspected aHUS, who presented post-partum with foetal death-in-utero at 33 and 37 weeks respectively...
February 2017: Nephrology
https://www.readbyqxmd.com/read/27905001/guidelines-for-diagnosis-and-management-of-the-cobalamin-related-remethylation-disorders-cblc-cbld-cble-cblf-cblg-cblj-and-mthfr-deficiency
#20
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici
BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach...
January 2017: Journal of Inherited Metabolic Disease
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