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Atypical haemolytic uremic syndrome with refractory multiorgan involvement and heterozygous CFHR1/CFHR3 gene deletion.

Jason DiepDaniela PotterJun MaiDanny Hsu
Published in: BMC nephrology (2023)
This case highlights the concept of extra-renal manifestations in aHUS initially resistant to eculizumab, which potentially responded to dose intensification. Whilst organ injuries are potentially reversible with timely targeted treatment, it appears that the kidneys are most vulnerable to injury.
Keyphrases
  • early onset
  • genome wide
  • copy number
  • case report
  • replacement therapy
  • combination therapy
  • gene expression
  • dna methylation