Haemolytic uraemic syndrome

Definition

Haemolytic uraemic syndrome (HUS) is a syndrome associated with microvascular diseases of the kidney and is characterized by haemolytic uraemia, thrombocytopenia and acute renal failure. Most cases of HUS are caused by bacterial or viral infection, although more-severe cases (atypical HUS) can result from genetic defects in complement activation.

Latest Research and Reviews

  • Reviews |

    Autoantibodies against complement factor H (FH), the main plasma regulatory protein of the alternative pathway of the complement system, are associated with atypical haemolytic uraemic syndrome and C3 glomerulopathy. Here, Arvind Bagga and colleagues describe the prevalence, mechanisms, features, therapies and outcomes of kidney diseases mediated by anti-FH antibodies, and propose an approach to evaluate and manage these diseases.

    • Marie-Agnes Dragon Durey
    • , Aditi Sinha
    • , Shambhuprasad Kotresh Togarsimalemath
    •  & Arvind Bagga
  • Reviews |

    Renal transplantation is the optimal form of renal replacement therapy for children with end-stage renal disease; however, disease recurrence can lead to graft loss, morbidity and death. In this Review, Justine Bacchetta and Pierre Cochat provide an update on the epidemiology, pathophysiology, effects and management of disease recurrence after paediatric renal transplantation. They also describe pretransplantation and post-transplantation risk-reduction strategies that aim to minimize the possibility of disease recurrence, and thus improve both graft and patient outcomes.

    • Justine Bacchetta
    •  & Pierre Cochat
  • Reviews |

    Atypical haemolytic uraemic syndrome (aHUS) is associated with genetic or autoimmune defects that affect the complement system; however, the identification of mutations in diacylglycerol kinase ε (DGKE) as the cause of a recessive form of aHUS characterized by proteinuria highlighted podocyte dysfunction as a potential complication of aHUS. Here, Marina Noris et al. discuss the mechanisms by which DGKE deficiency might lead to aHUS and podocyte dysfunction, and the possible links between DGKE and the complement system.

    • Marina Noris
    • , Caterina Mele
    •  & Giuseppe Remuzzi
  • Reviews |

    Here, Zuber et al., on behalf of the French Study Group for aHUS/C3G, discuss the role of eculizumab in the treatment of atypical haemolytic uraemic syndrome (aHUS). They review data from case reports and preliminary data from prospective trials, present their opinions, and describe issues that require further study. In addition, they discuss the potential use of eculizumab in C3 glomerulopathies.

    • Julien Zuber
    • , Fadi Fakhouri
    • , Lubka T. Roumenina
    • , Chantal Loirat
    •  & Véronique Frémeaux-Bacchi
  • Reviews |

    Haemolytic uraemic syndrome (HUS) leads to anaemia, thrombocytopenia and, ultimately, acute renal failure. Some patients are also at risk of cardiovascular complications owing to mutations in the complement pathway, which result in microangiopathic injury of the coronary vasculature. This Perspectives article highlights the cardiovascular complications arising in patients with HUS and the implications for treatment of this rare disease.

    • Marina Noris
    •  & Giuseppe Remuzzi
  • Research |

    Richard Lifton, Véronique Frémeaux-Bacchi and colleagues report that recessive mutations in DGKE cause atypical hemolytic-uremic syndrome with an early age of onset progressing to chronic kidney disease. The authors propose that loss of DGKE results in a prothrombotic state that underlies disease pathogenesis.

    • Mathieu Lemaire
    • , Véronique Frémeaux-Bacchi
    • , Franz Schaefer
    • , Murim Choi
    • , Wai Ho Tang
    • , Moglie Le Quintrec
    • , Fadi Fakhouri
    • , Sophie Taque
    • , François Nobili
    • , Frank Martinez
    • , Weizhen Ji
    • , John D Overton
    • , Shrikant M Mane
    • , Gudrun Nürnberg
    • , Janine Altmüller
    • , Holger Thiele
    • , Denis Morin
    • , Georges Deschenes
    • , Véronique Baudouin
    • , Brigitte Llanas
    • , Laure Collard
    • , Mohammed A Majid
    • , Eva Simkova
    • , Peter Nürnberg
    • , Nathalie Rioux-Leclerc
    • , Gilbert W Moeckel
    • , Marie Claire Gubler
    • , John Hwa
    • , Chantal Loirat
    •  & Richard P Lifton
    Nature Genetics 45, 531–536

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