BMJ Case Reports 2017; doi:10.1136/bcr-2017-219716
  • Unusual association of diseases/symptoms

Complement factor B mutation-associated aHUS and myocardial infarction

  1. Alexandra Dinis
  1. Serviáo de Cuidados Intensivos Pediátricos, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Portugal
  1. Correspondence to Dr Natália Noronha, natalianoronhaf{at}
  • Accepted 17 June 2017
  • Published 14 July 2017


A 6-month-old female infant was referred with a 3-day history of low-grade fever, slight nasal congestion and rhinorrhoea. On admission, the clinical findings were unremarkable and she was discharged home. However, she became progressively more listless with a decreased urine output and was once again seen in the emergency department. Analytically she was found to have metabolic acidosis, hyperkalaemia, thrombocytopaenia, anaemia and schistocytes in the peripheral blood smear. Based on these findings, the diagnosis of haemolyticâ-uremic syndrome was made. A few hours postadmission, there was an abrupt clinical deterioration. She went into cardiorespiratory arrest and she was successfully resuscitated. An ST-segment elevation was noted on the ECG monitor and the troponin I levels were raised, suggesting myocardial infarction. Despite intensive supportive therapy, she went into refractory shock and died within 30 hours.


  • Contributors Filipa Dias Costa wrote the background, case presentation and investigations. Natália Noronha wrote the treatment, outcome and follow-up and discussion. Andrea Dias and Alexandra Dinis wrote the learning points and reviewed the whole article.

  • Competing interests None declared.

  • Patient consent Obtained.

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

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