Atypical hemolytic uremic syndrome (aHUS) is a rare but life-threatening pediatric disease caused by uncontrolled activation of the alternative complement pathway related to genetic mutations and carries a worse prognosis. In the last decade, a monoclonal antibody against complement C5, eculizumab, has dramatically improved the disease outcomes. The complement mutations in aHUS are detected only in 60%-70% of cases in previous studies. We report a severe presentation of aHUS diagnosed in a two-month-old child who presented with seizures, renal failure with anuria, and microangiopathic hemolytic anemia and required peritoneal dialysis soon after admission. The patient was clinically diagnosed having aHUS and was started on eculizumab on day 4 of hospital admission. The genetic study for major known complement mutations causing aHUS was reported negative. He had a major episode of disease relapse associated with seizures four weeks after eculizumab therapy and required prolonged peritoneal dialysis over more than two months at the time of initial admission. He developed dilated cardiomyopathy and oro-motor dysfunction as complications of aHUS. At five-year follow-up, the patient has stage 3 chronic kidney disease (CKD), proteinuria, hypertension, and required G-tube for feeds. This report discussed the long-term outcome of an infant diagnosed with aHUS and tested negative for common complement mutations on eculizumab therapy. More research is needed to identify novel genes and antibodies contributing to aHUS. While the eculizumab is expensive, and the duration of treatment is not definite, the clinical severity of the disease, relapses, and presence of long-term renal complications are essential factors to decide treatment continuation.
Keywords: ahus; cardiomyopathy; chronic kidney disease; dilated cardiomyopathy; eculizumab.
Copyright © 2020, Shah et al.