Read by QxMD icon Read

Atypical haemolytic uraemic syndrome

Ratna Basak, Xiaotong Wang, Caitlin Keane, Robert Woroniecki
A 17-year-old girl presented with fever, myalgia, vomiting for 1 month and oliguria and dyspnoea for 4 days. She was tachycardic,hypertensive, with pedal oedema and decreased breath sounds. She had high serum creatinine (3 mg/dL), anaemia, thrombocytopenia, leucocytosis and eosinophilia with schistocytes. Lactate dehydrogenase, transaminases were high , with low haptoglobin and high ferritin (5269 ng/mL). Complement C3/C4 and fibrinogen were normal. Urinalysis showed large blood and protein and stool studies were negative...
February 11, 2018: BMJ Case Reports
Lucy Fox, Solomon J Cohney, Joshua Y Kausman, Jake Shortt, Peter D Hughes, Erica M Wood, Nicole M Isbel, Theo de Malmanche, Anne Durkan, Pravin Hissaria, Piers Blombery, Thomas D Barbour
Thrombotic microangiopathy (TMA) arises in a variety of clinical circumstances with the potential to cause significant dysfunction of the kidneys, brain, gastrointestinal tract and heart. TMA should be considered in all patients with thrombocytopenia and anaemia, with an immediate request to the haematology laboratory to look for red cell fragments on a blood film. Whilst TMA of any aetiology generally demands prompt treatment, this is especially so in thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS), where organ failure may be precipitous, irreversible and fatal...
February 8, 2018: Nephrology
Jailan Elayoubi, Kavitha Donthireddy, Divyesh Reddy Nemakayala
Thrombotic thrombocytopenic purpura (TTP) is a potentially reversible, life-threatening medical emergency. We present a case of a 21-year-old female with evidence of haemolytic anaemia based on the presence of positive markers of haemolysis. Negative Coomb's test, thrombocytopenia and placental infarcts raised suspicion for a thrombotic microangiopathy. She was diagnosed with TTP and managed with emergency plasma exchange. Her recovery was immediate.A presumptive diagnosis of TTP should be based on the presence of microangiopathic haemolytic anaemia with thrombocytopenia and plasma exchange should be initiated while complete work up is pending...
January 17, 2018: BMJ Case Reports
Johannes Münch, Anette Bachmann, Maik Grohmann, Christof Mayer, Michael Kirschfink, Tom H Lindner, Carsten Bergmann, Jan Halbritter
Atypical haemolytic uraemic syndrome (aHUS) may clinically present as acute renal graft failure resulting from excessive activation of the complement cascade. While mutations of complement-encoding genes predispose for aHUS, it is generally thought to require an additional insult (e.g. drugs) to trigger and manifest the full-blown clinical syndrome. Calcineurin inhibitors (CNIs) used for immunosuppression act as potential triggers, especially in the post-transplantation setting. Therefore, CNI-free immunosuppressive regimens may be beneficial...
December 2017: Clinical Kidney Journal
M Rizwan, K E Maduemem
Hemolytic Uremic Syndrome (HUS), a triad of microangiopathic hemolytic anemia, thrombocytopenia and acute kidney injury. The atypical HUS (aHUS) results from over activation of complement system with formation of micro thrombi and damage to endothelial cells resulting in renal impairment in 50 % and death in 25 %, commonly in untreated patients. We report an intriguing case of aHUS presenting with acute onset of movement disorder and fluctuating delirium.
August 12, 2017: Irish Medical Journal
C Legendre, R Sberro-Soussan, J Zuber, V Frémeaux-Bacchi
Introduction and background: The complement system which belongs to the innate immune system acts both as a first line of defence against various pathogens and as a guardian of host homeostasis. The role of complement has been recently highlighted in several aspects of kidney transplantation: ischaemia-reperfusion, antibody-mediated rejection and native kidney disease recurrence. Sources of data: Experimental data, availability of complement-blocking molecules (mainly the anti-C5 monoclonal antibody, eculizumab) and several trials in human kidney transplant recipients has led to some areas of agreement and some disappointment...
October 21, 2017: British Medical Bulletin
Vicky Brocklebank, David Kavanagh
Thrombotic microangiopathy (TMA), characterized by organ injury occurring consequent to severe endothelial damage, can manifest in a diverse range of diseases. In complement-mediated atypical haemolytic uraemic syndrome (aHUS) a primary defect in complement, such as a mutation or autoantibody leading to over activation of the alternative pathway, predisposes to the development of disease, usually following exposure to an environmental trigger. The elucidation of the pathogenesis of aHUS resulted in the successful introduction of the complement inhibitor eculizumab into clinical practice...
October 2017: Clinical Kidney Journal
Elena Román, Santiago Mendizábal, Isidro Jarque, Javier de la Rubia, Amparo Sempere, Enrique Morales, Manuel Praga, Ana Ávila, José Luis Górriz
Understanding the role of the complement system in the pathogenesis of atypical haemolytic uraemic syndrome and other thrombotic microangiopathies (TMA) has led to the use of anti-complement therapy with eculizumab in these diseases, in addition to its original use in patients with paroxysmal nocturnal haemoglobinuria andatypical haemolytic uraemic syndrome. Scientific evidence shows that both primary and secondary TMAs with underlying complement activation are closely related. For this reasons, control over the complement system is a therapeutic target...
September 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
Patrick R Walsh, Sally Johnson
Haemolytic uraemic syndrome (HUS), comprising microangiopathic haemolytic anaemia, thrombocytopaenia and acute kidney injury, remains the leading cause of paediatric intrinsic acute kidney injury, with peak incidence in children aged under 5 years. HUS most commonly occurs following infection with Shiga toxin-producing Escherichia coli (STEC-HUS). Additionally, HUS can occur as a result of inherited or acquired dysregulation of the alternative complement cascade (atypical HUS or aHUS) and in the setting of invasive pneumococcal infection...
September 12, 2017: Archives of Disease in Childhood
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
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
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. This activation is efficiently suppressed by complement factor H (CFH) on self-surfaces but not on foreign surfaces. The surface selectivity of CFH, a soluble protein containing 20 complement-control protein modules (CCPs 1-20), may be compromised by disease-linked mutations. However, which of the several functions of CFH drives this self-surface selectivity remains unknown. To address this, we expressed human CFH mutants in Pichia pastoris We found that recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH, whereas R53H-CFH, linked to atypical hemolytic uremic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I cofactor activity (CA)...
August 11, 2017: Journal of Biological Chemistry
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
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
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
A typical hemolytic uremic syndrome (aHUS) presents similarly to thrombotic thrombocytopenic purpura (TTP) and other causes or conditions with thrombotic microangiopathy (TMA), such as disseminated intravascular coagulation 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 summarize available data on the diagnosis and treatment strategies of aHUS in the ICU to enhance the understanding of aHUS diagnosis and outcomes in patients managed in the ICU...
August 2017: Chest
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
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
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
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)...
October 2017: Patient
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...
December 2017: Archivos de la Sociedad Española de Oftalmología
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"