Haemolytic uraemic syndrome articles from across Nature Portfolio

Knowledge of complement genetics has improved understanding of the pathogenesis of primary atypical haemolytic uraemic syndrome (aHUS). This Review summarizes current knowledge of complement genetics in aHUS and discusses how complement studies affect the management of patients with other thrombotic microangiopathies.

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.

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.

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 DGKEand the complement system.

Effective treatments for atypical haemolytic uraemic syndrome (aHUS) have long been lacking, but the discovery that complement dysregulation is a major risk factor for this disease and the availability of the complement inhibitor eculizumab have improved the clinical picture. Legendre et al. have now published results from two prospective trials investigating eculizumab use in aHUS. Although we have come a long way, questions remain.