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BMJ Case Reports 2018; doi:10.1136/bcr-2017-222560
  • Unusual association of diseases/symptoms
  • CASE REPORT

Atypical presentation of atypical haemolytic uraemic syndrome

  1. Robert Woroniecki1
  1. 1Department of Pediatrics, Stony Brook University Hospital, Stony Brook, New York, USA
  2. 2Department of Pathology, Stony Brook University Hospital, Stony Brook, New York, USA
  1. Correspondence to Dr Ratna Basak, ratnabimalbasak{at}gmail.com
  • Accepted 25 January 2018
  • Published 11 February 2018

Summary

A 17-year-old girl presented with fever, myalgia, vomiting for 1 month and oliguria and dyspnoea for 4 days. She was tachycardic,hypertensive, with pedal oedema and decreased breath sounds. She had high serum creatinine (3 mg/dL), anaemia, thrombocytopenia, leucocytosis and eosinophilia with schistocytes. Lactate dehydrogenase, transaminases were high , with low haptoglobin and high ferritin (5269 ng/mL). Complement C3/C4 and fibrinogen were normal. Urinalysis showed large blood and protein and stool studies were negative. Her ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) was normal. Kidney biopsy showed acute interstitial nephritis (AIN) in addition to thrombotic angiopathy. The differentials - haemolytic uraemic syndrome (HUS), thrombotic thrombocytopenia (TTP) and haemophagocytic lymphohistiocytosis (HLH) were ruled out. Her genetic testing was abnormal for large CFHR1–CFHR3 homozygous deletion and heterozygous missense variant in exon 2 of DGKE making the diagnosis of atypical HUS. She received eculizumab and was discharged on oral steroids for AIN and biweekly eculizumab infusions with excellent recovery.

Footnotes

  • Contributors RB and RW have been involved in treating the patient and in planning, conducing, reporting, conception and design, acquisition of data, and analysis and interpretation of data. XW and CK were involved in planning, conducting, reporting, conception and design, acquisition of data, and analysis and interpretation of data.

  • Competing interests None declared.

  • Patient consent Guardian consent obtained.

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

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