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Peer-reviewedCC BYCureus

Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report.

  • Anil Jain1
  • Deyab Mohamed1
  • Gauri Satheesh Nair2
  • Marios Magriplis1
  • Ahmed Yusuf3
  • Gabrielle Matthews4
4 affiliations
  1. 1Nephrology, United Lincolnshire Teaching Hospitals NHS Trust, Lincoln, GBR.
  2. 2Medicine, United Lincolnshire Teaching Hospitals NHS Trust, Lincoln, GBR.
  3. 3Medicine, Lincoln County Hospital, United Lincolnshire Teaching Hospitals NHS Trust, Lincoln, GBR.
  4. 4Pathology, University Hospitals of Leicester NHS Trust, Leicester, GBR.
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Abstract

A 57-year-old gentleman with no prior kidney disease presented with rapidly progressive acute kidney injury, anaemia, and hypertension. Initial investigations revealed severe acute kidney injury, microangiopathic haemolysis, and heavy proteinuria. Secondary causes of thrombotic microangiopathy (TMA), including Shiga toxin infection, autoimmune disease, malignant hypertension, and medication-induced injury, were systematically excluded. A renal biopsy demonstrated morphological features of TMA and helped exclude important mimics. Subsequent genetic testing identified a pathogenic complement factor H (CFH) splice site mutation, supporting a diagnosis of complement-mediated atypical haemolytic uraemic syndrome (aHUS). He required urgent dialysis. Following counselling and meningococcal vaccination, complement inhibition with eculizumab was offered, but the patient declined because of concerns about lifelong infection risk. He remains dialysis dependent. This case highlights the role of kidney biopsy in characterising injury and excluding mimics, the importance of recognising complement-mediated disease early, and the need for thoughtful, shared decision-making when treatment involves long-term immunological risk.

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Cite

BibTeXRIS
BibTeX
@article{jain2026complement,
  title = {{Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report.}},
  author = {Anil Jain and Deyab Mohamed and Gauri Satheesh Nair and Marios Magriplis and Ahmed Yusuf and Gabrielle Matthews},
  journal = {Cureus},
  year = {2026},
  month = sep,
  doi = {10.7759/cureus.117074},
  url = {https://europepmc.org/article/MED/42953245},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Complement Factor H Mutation-Associated Atypical Haemolytic Uraemic Syndrome Presenting With Dialysis-Dependent Renal Failure: A Case Report.
AU  - Anil Jain
AU  - Deyab Mohamed
AU  - Gauri Satheesh Nair
AU  - Marios Magriplis
AU  - Ahmed Yusuf
AU  - Gabrielle Matthews
PY  - 2026
DA  - 2026/09/28
JO  - Cureus
DO  - 10.7759/cureus.117074
UR  - https://europepmc.org/article/MED/42953245
AB  - A 57-year-old gentleman with no prior kidney disease presented with rapidly progressive acute kidney injury, anaemia, and hypertension. Initial investigations revealed severe acute kidney injury, microangiopathic haemolysis, and heavy proteinuria. Secondary causes of thrombotic microangiopathy (TMA), including Shiga toxin infection, autoimmune disease, malignant hypertension, and medication-induced injury, were systematically excluded. A renal biopsy demonstrated morphological features of TMA and helped exclude important mimics. Subsequent genetic testing identified a pathogenic complement factor H (CFH) splice site mutation, supporting a diagnosis of complement-mediated atypical haemolytic uraemic syndrome (aHUS). He required urgent dialysis. Following counselling and meningococcal vaccination, complement inhibition with eculizumab was offered, but the patient declined because of concerns about lifelong infection risk. He remains dialysis dependent. This case highlights the role of kidney biopsy in characterising injury and excluding mimics, the importance of recognising complement-mediated disease early, and the need for thoughtful, shared decision-making when treatment involves long-term immunological risk.
SN  - 2168-8184
ER  -