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.
- Marina Noris
- Caterina Mele
- Giuseppe Remuzzi
