Complement factor B mutation-associated aHUS and myocardial infarction

BMJ Case Rep. 2017 Jul 14:2017:bcr2017219716. doi: 10.1136/bcr-2017-219716.

Abstract

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.

Keywords: Acute Renal Failure; Cardiovascular Medicine; Neonatal And Paediatric Intensive Care.

Publication types

  • Case Reports

MeSH terms

  • Atypical Hemolytic Uremic Syndrome / complications
  • Atypical Hemolytic Uremic Syndrome / diagnosis*
  • Complement Factor B / genetics*
  • Diagnosis, Differential
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Myocardial Infarction / complications
  • Myocardial Infarction / diagnosis*

Substances

  • Complement Factor B