ESPN 50th Annual Meeting

ESPN 2017


 
Atypical Haemolytic uremic syndrome case report triggered with E.coli 0119k69 infection
IHAB SHAHEEN 1 Entesar Al Hammadi 1 Loai Eid 1

1- Dubai Hospital, DHA, Dubai, UAE
 
Introduction:

To describe a case who presented with atypical HUS and carries a homozygous CFHR1/CFHR3 deletions. She was found to have E coli 0119k69 infection as well. We assume that E coli infection has triggered HUS in our case.

Material and methods:

case report

Results:

1 year old girl presented with fever, non bloody diarrhea for 5 days. She has been anuric for couple of days before presenting to Hospital. Her initial investigations revealed acute renal failure with microangiopathic haemolysis. Platelets has been normal all the way through her illness. Her creatinine was 4.9 mg/dl (0.2-0.4), urea was 178 mg/dl ( 12-40), uric acid 15.4 mg/dl ( 2-6.2). high retic count at 3.13% ( 0.8-2). Normal electrolytes. Her parents are first degree cousins with no family history of renal diseases. LDH 5229 u/l ( 0-850). Blood film was consistent with HUS. She has received 1 dose of Eculizumab on her second day of admission, she has needed 6 haemodialysis sessions over 10 days as she has remained anuric for 10 days. She has also required blood transfusion. Her urine output has improved and she was discharged home after 3 weeks. She was not given any further doses of Eculizumab. Her initial total complement activity CH50 was low at presentation, however, her repeated level at 3 monthly basis has all been normal along with normalCFH level. Full genetic testing for atypical HUS has revealed that she carries a homozygous CFHR1/CFHR3 deletions. She has remained well with normal renal function, she was kept on low dose of ACE inhibitor due to low grade proteinuria.

Conclusions:

To our knowledge , this is the first case in literature to have this combination. It also raises the question of the benefit of giving Eculizumab for life in this very rare case. After discussing with the family, we keep repeating CH50 as a marker of complement activity. Further studies needed to answer this question.