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Atypical haemolytic uraemic syndrome

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
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
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...
October 10, 2016: Journal of Internal Medicine
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
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
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
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
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
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
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
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
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
Mari R Thomas, Susan Robinson, Marie A Scully
Differentiation between the thrombotic microangiopathies (TMAs) that present in pregnancy may be clinically challenging, but is critical to ensure correct management because of the impact on fetal and maternal outcomes. Thrombotic thrombocytopenic purpura (TTP) and atypical haemolytic uraemic syndrome (aHUS) are medical/obstetric emergencies that require specialist input, both at the time of acute diagnosis and follow-up in subsequent pregnancies. Features of preeclampsia and HELLP syndrome (haemolysis, elevated liver enzymes, low platelets) may precede or be present in evolving TTP or aHUS...
June 2016: British Journal of Haematology
Ángel Augusto Pérez-Calatayud, Jesús Carlos Briones-Garduño, Mercedes Del Pilar Álvarez-Goris, Ricardo Sánchez Zamora, Angélica A Torres Aguilar, Rosa Elba Mendoza-Mórales
Atypical haemolytic uraemic syndrome is one of the main variants of thrombotic microangiopathy, and is characterized by excessive complement activation in the microvasculature. It is also characterised by the clinical triad; non-immune haemolytic anaemia, thrombocytopenia, and acute renal failure. In addition, 60% of patients have mutations in the genes encoding complement regulators (factor H, factor I, membrane cofactor proteins, and thrombomodulin), activators (factor B and C3), as well as autoantibodies against factor H...
July 2016: Cirugia y Cirujanos
Olga Nikolajeva, Austen Worth, Rosie Hague, Nuria Martinez-Alier, Joanne Smart, Stuart Adams, E Graham Davies, H Bobby Gaspar
No abstract text is available yet for this article.
March 7, 2016: Journal of Clinical Immunology
Khadizha Emirova, Elena Volokhina, Evgenia Tolstova, Bert van den Heuvel
We present the case of a 18-month-old girl with renal and cardiac manifestations of atypical haemolytic uraemic syndrome (aHUS), and a novel complement factor H mutation. Transient haematological remission was achieved with intensive plasmapheresis, but cardiac function deteriorated and renal function was not restored. Initiation of eculizumab after 6 months of dialysis significantly improved organ function. At 43 months after presentation, haematological values had normalised and cardiac function had improved...
February 15, 2016: BMJ Case Reports
Yusuke Okuda, Kenji Ishikura, Chikako Terano, Ryoko Harada, Riku Hamada, Hiroshi Hataya, Kentaro Ogata, Masataka Honda
Histopathological findings can play an important role in the management of atypical haemolytic uraemic syndrome (aHUS). We report a case of aHUS that did not recover from anuria, despite the administration of eculizumab, with impressive histopathological findings. A 3-month-old girl was admitted because of poor feeding, vomiting, and diarrhoea without haemorrhage. She had anuria and severe hypertension, and laboratory results showed haemolytic anaemia with schizocytes, thrombocytopenia, and renal impairment...
March 2016: Nephrology
Sriram Krishnamurthy, Anbazhagan Jagadeesh, Venkatesh Chandrasekaran, Subramanian Mahadevan, Nachiappa Ganesh Rajesh
A 15-month-old boy presented with atypical haemolytic uraemic syndrome (HUS) (without antecedent diarrhoea or dysentery) following a gluteal abscess and subsequently developed digital gangrene. During plasma infusion therapy for HUS, the clinical features of Kawasaki disease (KD) evolved. Intravenous immunoglobulin and aspirin therapy led to resolution of the KD. The case is notable for development of digital gangrene, a rare phenomenon described with HUS, as well as the development of features of KD. This is the first report of atypical HUS in association with peripheral gangrene and KD...
January 9, 2016: Paediatrics and International Child Health
Anne M Durkan, Siah Kim, Jonathan Craig, Elizabeth Elliott
BACKGROUND: Atypical haemolytic uraemic syndrome (aHUS) accounts for ∼10% of all cases of HUS and is often due to complement dysregulation. The short-term outcomes for this disease are established, but there are limited long-term data. The long-term outcomes of a comprehensive nationwide cohort of children with aHUS are presented here. METHODS: The Australian Paediatric Surveillance Unit prospectively collected data on all cases of HUS in children seen by paediatricians between 1994 and 2001...
April 2016: Archives of Disease in Childhood
Sudheer Kumar Reddy, Afsana Jahan, Swasti Chaturvedi, Indira Agarwal
BACKGROUND: Outcome data in paediatrics regarding the use of plasmapheresis for immunological kidney disease are scarce. OBJECTIVES: We aimed to evaluate the role of plasmapheresis in children presenting with severe renal impairment secondary to immunological kidney diseases. METHODS: A retrospective chart review of children admitted between January 2009 and August 2013 to the Paediatric Nephrology Unit, Christian Medical College, Vellore, India, and requiring plasma exchange was undertaken...
December 2015: Clinical Kidney Journal
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