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Rare disease
CASE REPORT
Atypical haemolytic uremic syndrome from multiple missenses to a full-blown disease
  1. Filipe Santos Mira1,2,
  2. Ana Luísa Nunes3,
  3. Ana Rita Elvas3 and
  4. Nuno Oliveira1,2
  1. 1 Nephrology, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal
  2. 2 Nephrology, Faculty of Medicine, Coimbra, Portugal
  3. 3 Internal Medicine, Centro Hospitalar e Universitario de Coimbra EPE, Coimbra, Portugal
  1. Correspondence to Dr Filipe Santos Mira, filipemira{at}netcabo.pt

Abstract

A 72-year-old woman was admitted to the hospital because of dorsal, lumbar and lower abdomen pain that had started 4 days before. She had a history of age-related macular degeneration (treated with intraocular bevacizumab). Blood tests showed anaemia, thrombocytopaenia, acute kidney injury, elevated liver enzymes and total bilirubin (mainly because of the indirect fraction). Viral serologies and ADAMTS13 activity levels were normal, and stool testing was negative for Escherichia coli-producing Shiga toxins. E. coli was isolated in urine. Atypical haemolytic uremic syndrome triggered by a urinary tract infection or by the vascular endothelial growth factor-inhibitor bevacizumab were the most likely hypothesis. The patient started urgent plasmapheresis and dialysis that lasted for a total of 18 days. There was complete remission and recovery of kidney function allowing for treatment discontinuation, and she was discharged home. After 6 months of follow-up, she shows no signs of relapse.

  • haematology (incl blood transfusion)
  • dialysis
  • fluid electrolyte and acid-base disturbances
  • acute renal failure

https://doi.org/10.1136/bcr-2019-230026

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    Footnotes

    • Contributors FSM wrote the article, proof read it and approved the final version of the article. ALN aided in the acquisition of the data, conceived the article, revised it and approved the final version. ARE interpreted the data, proofread the article and approved the final version. NO designed the article’s orientation, proofread it, provided critical intellectual content and approved the final version.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Obtained.