. DEFECTS OF INNATE IMMUNITY .

Atypical Haemolytic Uremic Syndrome (aHUS) panel [13 genes]

Complement’s alternative pathway deficiency

aHUS is a disease characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. aHUS is a consequence of the altered regulation of complement system activation on cell surfaces, leading to endothelial damage mediated by C5 and the complement terminal pathway. Therefore, activating events lead to unrestricted, ongoing complement activity producing widespread endothelial injury. Pathogenic mutations include those resulting in loss-of-function in a complement regulatory gene (CFH, CFI, CD46, or THBD), gain-of-function in an effector gene (CFB or C3), or combination of different variants in more than two genes.

Clinical features

  • Anaemia, thrombocytopenia and renal disease
  • Onset: childhood, adults

Prevalence

  • ~1:100,000

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Plasma Tx
  • Eculizumab

C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, G6PD, DGKE, THBD

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