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Atypical haemolytic uraemic syndrome

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https://www.readbyqxmd.com/read/28339660/eculizumab-in-secondary-atypical-haemolytic-uraemic-syndrome
#1
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...
February 20, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28242109/haemolytic-uraemic-syndrome
#2
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 23, 2017: Lancet
https://www.readbyqxmd.com/read/28176479/long-term-remission-with-eculizumab-in-atypical-haemolytic-uraemic-syndrome
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/27871301/an-innovative-and-collaborative-partnership-between-patients-with-rare-disease-and-industry-supported-registries-the-global-ahus-registry
#10
REVIEW
Len Woodward, Sally Johnson, Johan Vande Walle, Joran Beck, Christoph Gasteyger, Christoph Licht, Gema Ariceta
BACKGROUND: Patients are becoming increasingly involved in research which can promote innovation through novel ideas, support patient-centred actions, and facilitate drug development. For rare diseases, registries that collect data from patients can increase knowledge of the disease's natural history, evaluate clinical therapies, monitor drug safety, and measure quality of care. The active participation of patients is expected to optimise rare-disease management and improve patient outcomes...
November 21, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27723152/haemolytic-uraemic-syndrome
#11
REVIEW
Diana Karpman, Sebastian Loos, Ramesh Tati, Ida Arvidsson
Haemolytic uraemic syndrome (HUS) is defined by the simultaneous occurrence of nonimmune haemolytic anaemia, thrombocytopenia and acute renal failure. This leads to the pathological lesion termed thrombotic microangiopathy, which mainly affects the kidney, as well as other organs. HUS is associated with endothelial cell injury and platelet activation, although the underlying cause may differ. Most cases of HUS are associated with gastrointestinal infection with Shiga toxin-producing enterohaemorrhagic Escherichia coli (EHEC) strains...
February 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27587606/atypical-haemolytic-uraemic-syndrome-and-pregnancy-outcome-with-ongoing-eculizumab
#12
Aude Servais, Nadège Devillard, Véronique Frémeaux-Bacchi, Aurélie Hummel, Laurent Salomon, Cécile Contin-Bordes, Hélène Gomer, Christophe Legendre, Yahsou Delmas
BACKGROUND: A therapeutic strategy based on complement blockade by eculizumab is widely used to treat atypical haemolytic uraemic syndrome (aHUS). Recent data are available on the administration of eculizumab during pregnancy in patients treated for paroxysmal nocturnal haemoglobinuria but there are very few data for aHUS patients. METHODS: We analysed the use of eculizumab for the treatment of aHUS during five pregnancies in three patients and studied an additional pregnancy without eculizumab...
December 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/27582861/pregnancy-associated-atypical-haemolytic-uraemic-syndrome-in-the-postpartum-period-a-case-report-and-review-of-the-literature
#13
M Egbor, A Johnson, F Harris, D Makanjoula, H Shehata
Pregnancy has been reported to be a trigger in about 10% of all patients with atypical haemolytic uraemic syndrome (aHUS). However, in contrast to pregnancy-associated thrombotic thrombocytopaenic purpura, the presentation of pregnancy-associated aHUS remains ill defined and can therefore be difficult to diagnose and manage appropriately. Here we report a case of pregnancy-associated relapse of aHUS in a patient with a previous medical history of aHUS prior to pregnancy.
June 2011: Obstetric Medicine
https://www.readbyqxmd.com/read/27452363/anti-complement-factor-h-associated-glomerulopathies
#14
REVIEW
Marie-Agnes Dragon Durey, Aditi Sinha, Shambhuprasad Kotresh Togarsimalemath, Arvind Bagga
Atypical haemolytic uraemic syndrome (aHUS), an important cause of acute kidney injury, is characterized by dysregulation of the complement pathway, frequent need for dialysis, and progression to end-stage renal disease. Autoantibodies against complement factor H (FH), the main plasma regulatory protein of the alternative pathway of the complement system, account for a considerable proportion of children with aHUS. The autoantibodies are usually associated with the occurrence of a homozygous deletion in the genes encoding the FH-related proteins FHR1 and FHR3...
September 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27382949/an-unusual-case-of-haemolytic-uraemic-syndrome-following-endoscopic-retrograde-cholangiopancreatography-rapidly-improved-with-eculizumab
#15
O Taton, M Delhaye, P Stordeur, T Goodship, A Le Moine, A Massart
Atypical haemolytic uraemic syndrome (aHUS) is a rare but life-threatening complement system-related disorder, characterized by renal failure, non-immune haemolytic anaemia and thrombo-cytopenia. We report on a young woman who developed a pancreatitis-induced aHUS following a routine procedure of endoscopic retrograde cholangiopancreatography. The patient was successively treated by 2 plasma exchanges with fresh frozen plasma and eculizumab, a monoclonal antibody designed to block terminal complement activation...
April 2016: Acta Gastro-enterologica Belgica
https://www.readbyqxmd.com/read/27374918/the-expanding-phenotypic-spectra-of-kidney-diseases-insights-from-genetic-studies
#16
REVIEW
Marijn F Stokman, Kirsten Y Renkema, Rachel H Giles, Franz Schaefer, Nine V A M Knoers, Albertien M van Eerde
Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether disease diagnoses should be made on clinical grounds, on genetic evidence or a combination thereof. Here, we discuss the major kidney disease-associated genes and gene categories for which NGS has expanded the phenotypic spectrum...
August 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/27293583/erratum-post-partum-atypical-haemolytic-uraemic-syndrome-treated-with-eculizumab-terminal-complement-activity-assessment-in-clinical-practice
#17
Yahsou Delmas, Cécile Bordes, Chantal Loirat, Véronique Frémeaux-Bacchi, Christian Combe
[This corrects the article on p. 243 in vol. 6, PMID: 26019860.].
August 2013: Clinical Kidney Journal
https://www.readbyqxmd.com/read/27268256/chromosomal-rearrangement-a-rare-cause-of-complement-factor-i-associated-atypical-haemolytic-uraemic-syndrome
#18
Patrick J Gleeson, Valerie Wilson, Thomas E Cox, Seema D Sharma, Kate Smith-Jackson, Lisa Strain, David Lappin, Teresa McHale, David Kavanagh, Timothy H J Goodship
Chromosomal rearrangements affecting the genes encoding complement factor H and the factor H related proteins have been described in aHUS patients. To date such disorders have not been described in other aHUS associated genes. We describe here a heterozygous 875,324bp deletion encompassing the gene (CFI) encoding complement factor I and ten other genes. The index case presented with aHUS and did not recover renal function. No abnormalities were detected on Sanger sequencing of CFI but a low factor I level led to a multiplex ligation-dependent probe amplification assay being undertaken...
October 2016: Immunobiology
https://www.readbyqxmd.com/read/27267919/autoantibodies-against-alternative-complement-pathway-proteins-in-renal-pathologies
#19
Pilar Nozal, Margarita López-Trascasa
Complement system activation plays an important role in several renal pathologies, including antibody-mediated glomerulonephritis, ischaemia-reperfusion injury of trasplanted kidneys or renal allograft rejection. Besides these conditions, alternative pathway abnormalities are directly involved in the pathogenesis of C3 glomerulopathies and atypical haemolytic uraemic syndrome. These abnormalities may be inherited or acquired, the latter as autoantibodies directed against the various components and regulators of the alternative complement pathway...
September 2016: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/27190382/systemic-complement-activation-and-complement-gene-analysis-in-enterohaemorrhagic-escherichia-coli-associated-paediatric-haemolytic-uraemic-syndrome
#20
Thurid Ahlenstiel-Grunow, Svenja Hachmeister, Franz Christoph Bange, Cyrill Wehling, Michael Kirschfink, Carsten Bergmann, Lars Pape
BACKGROUND: In contrast to atypical haemolytic uraemic syndrome (aHUS), only single case reports and limited data have been published on systemic activation of the complement system and mutations in complement genes in paediatric enterohaemorrhagic Escherichia coli-induced HUS (EHEC-HUS). METHODS: Complement activation (CH50, APH50, C3d, sC5b-9) was analysed at four timepoints (Week 1, Week 2, Month 3 and Month 6 after primary diagnosis of HUS) in 25 children with EHEC-HUS...
July 2016: Nephrology, Dialysis, Transplantation
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