Abstract

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a very rare disease, which presents with microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. Progression to end-stage renal disease (ESRD) from acute kidney injury is observed in 60% of aHUS cases. The prognosis of aHUS patients who undergo kidney transplantation (Ktx) is generally poor, but these patients should be treated prophylactically with eculizumab to prevent recurrence after transplantation.

CASE REPORT: An 18-year-old man was referred to our center with a history of rapid progression to ESRD with unknown etiology. He had anemia, thrombocytopenia, high levels of LDH, and indirect bilirubin and creatinine on initial laboratory results. Our diagnosis was aHUS due to initial results, normal level of ADAMTS activity, and lack of predisposing factors seen in typical HUS. We planned to perform genetic analysis for the patient and the donor candidate (mother). The variations found on exon 7 of the CFH gene had not been reported previously. According to PolyPhen analysis, this mutation was reported as a potential cause for aHUS. We decided to perform Ktx under eculizumab prophylaxis. Weekly administration of prophylaxis was extended to 1 month. The graft functioned immediately after Ktx. The patient has completed his first year uneventfully in our follow-up, with a creatinine 0.79 mg/dl at his last control visit.

CONCLUSIONS: We found favorable results of an aHUS case successfully treated with kidney transplantation combined with short-term prophylactic eculizumab therapy.

Keywords: Complement C5, Hemolytic-Uremic Syndrome, Kidney Transplantation