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Atypical haemolytic uraemic syndrome: a case of rare genetic mutation
  1. Geminiganesan Sangeetha1,
  2. Jaippreetha Jayaraj2,
  3. Swathi Ganesan2 and
  4. Sreeapoorva Puttagunta3
  1. 1Department of Paediatric Nephrology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  2. 2Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  3. 3Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  1. Correspondence to Dr Geminiganesan Sangeetha; sangeethaperungo{at}gmail.com

Abstract

Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical haemolytic uraemic syndrome (aHUS) is a rare thrombotic microangiopathy that affects multiple organs, particularly kidneys. The disease is characterised by a triad of haemolytic anaemia, thrombocytopenia and acute kidney injury (AKI). aHUS is most commonly caused by dysregulation of alternative complement pathway. In contrast to shiga toxin-associated haemolytic uraemic syndrome, diarrheal prodrome is usually absent in children with aHUS. We report a 2-year, 9-month-old boy who presented with acute dysentery and AKI. He had an unusual prolonged course of illness with hypocomplementaemia; hence, genetic testing was performed. He had a storming course in the hospital and succumbed to complications of the disease. Genetic study revealed digenic mutation in Complement Factor I and C3. Therefore, it is important to differentiate aHUS from other thrombotic microangiopathies to improve the outcome.

  • genetics
  • haematology (incl blood transfusion)
  • immunology
  • paediatrics
  • renal medicine

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Footnotes

  • Contributors GS, JJ, SG and SP generated the idea for publication and contributed to the planning, literature review, drafting, editing and submission of this work.

  • 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.

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