Abstract

Atypical hemolytic uremic syndrome (aHUS) is a disease with a high mortality and morbidity. About the use of eculizumab treatment in early period in children with aHUS, no clear opinion has been expressed in limited amount articles in the literature. We would like to contribute the literature with our aHUS case we are presenting. As the three year old boy presented with nose-bleeding, with it’s clinical analysis the diagnosis of aHUS was considered. Eculizumab was started in the case second day of treatment which was unresponsive to plasma infusion therapy. Due to increasing blood pressurre and loss of kidney functions peritoneal dialysis was started. In the case the aminoasid change p. Thr300Ala in gene complement factor I (CFI) one of the complement system genetic mutations, was detected as homozygote variation. In the 14th day of eculizimab treatment, hemoglobin and thrombocyte count turned to normal of the case which edema disappeared and the high blood pressure turned up to normal value. Peritoneal dialysis treatment was terminated once glomerular filtration rate (GFR) reached 85 ml/1.73m2/min in the 14th day. However, due to continuing of proteinuria at nephrotic level during the discharge angiotensin converting enzyme inhibitor therapy was proceeded. The case that has been observed has received 300 mg eculizimab therapy biweekly, and on the third month of the therapy the level of C3 (63mg/dl) has still remained at low level. In our atypical HUS case, we believe that an early phase eculizumab threapy provided a perfect (or complete) recovery in clinic and kidney functions.